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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EFCAB6_chr22_43523778_43817305  EFCAB6_chr22_43523778_43817305 (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 64800
ensemblid ENSG00000186976.15
hgncid 24204
symbol EFCAB6
name EF-hand calcium binding domain 6
refseq_nuc NM_022785.4
refseq_prot NP_073622.2
ensembl_nuc ENST00000262726.12
ensembl_prot ENSP00000262726.7
mane_status MANE Select
chr chr22
start 43528778
end 43812305
strand -
ver v1.2
region chr22:43528778-43812305
region5000 chr22:43523778-43817305
regionname0 EFCAB6_chr22_43528778_43812305
regionname5000 EFCAB6_chr22_43523778_43817305

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 1501 93 21 17 42 2 11 36 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002 0/0 1501 40 28 6 2 1 3 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0003 0/1 1501 33 0 4 21 2 5 16 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0004 0/0 1501 28 0 1 20 2 5 14 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0005 0/0 1501 21 1 3 12 2 3 10 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0006 0/0 1501 15 5 5 1 4 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0007 0/0 1501 14 13 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0008 0/0 1501 8 0 1 7 0 0 6 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0009 0/0 1501 5 5 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0010 0/0 1501 5 0 3 0 2 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0011 0/0 1501 3 0 3 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0012 0/0 1501 3 0 1 0 1 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0013 0/0 1501 2 2 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0014 0/0 1501 2 0 0 0 0 2 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0015 0/0 1501 1 0 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0016 0/0 1501 1 0 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0017 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0018 0/0 1501 1 0 0 1 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0019 0/0 1501 1 0 0 1 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0020 0/0 1501 1 0 0 1 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0021 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0022 0/0 1501 1 0 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0023 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0024 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0025 1/0 1501 1 0 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0026 0/0 1501 1 0 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0027 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0028 0/0 1501 1 0 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0029 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0030 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0031 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0032 0/0 1501 1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 4506 83 17 15 40 1 10 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0002 0/0 4506 34 25 5 1 1 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0003 0/1 4506 33 0 4 21 2 5 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0004 0/0 4506 18 1 2 11 2 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0005 0/0 4506 17 0 1 12 2 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0006 0/0 4506 15 5 5 1 4 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0007 0/0 4506 9 8 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0008 0/0 4506 7 0 1 6 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0009 0/0 4506 6 0 0 6 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0010 0/0 4506 5 5 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0011 0/0 4506 5 0 3 0 2 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0012 0/0 4506 5 0 0 2 0 3 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0013 0/0 4506 5 2 2 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0014 0/0 4506 5 5 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0015 0/0 4506 3 0 3 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0016 0/0 4506 3 0 1 0 1 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0017 0/0 4506 2 0 0 0 0 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0018 0/0 4506 2 2 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0019 0/0 4506 2 1 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0020 0/0 4506 2 0 0 1 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0021 0/0 4506 2 0 0 1 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0022 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0023 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0024 0/0 4506 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0025 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0026 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0027 0/0 4506 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0028 0/0 4506 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0029 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0030 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0031 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0032 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0033 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0034 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0035 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0036 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0037 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0038 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0039 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0040 1/0 4506 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0041 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0042 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0043 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0044 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0045 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0046 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0047 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
c0048 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 358 266 65 47 106 15 31 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0002 0/0 358 14 14 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0003 0/0 358 3 1 1 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0004 0/0 358 2 2 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0005 0/0 358 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0006 0/0 358 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0007 0/0 358 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0008 0/0 358 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
t0009 0/0 358 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0002 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0003 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0004 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0005 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0006 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0007 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0008 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0009 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0010 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0011 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0012 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0013 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0014 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0015 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0016 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0017 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0018 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0019 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0020 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0021 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0022 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0023 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0024 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0025 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0026 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0027 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0028 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0029 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0030 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0031 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0032 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0033 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0034 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0035 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0036 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0037 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0038 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0039 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0040 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0041 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0042 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0043 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0044 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0045 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0046 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0047 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0048 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0049 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0050 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0051 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0052 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0053 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0054 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0055 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0056 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0057 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0058 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0059 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0060 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0061 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0062 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0063 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0064 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0065 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0066 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0067 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0068 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0069 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0070 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0071 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0072 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0073 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0074 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0075 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0076 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0077 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0078 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0079 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0080 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0081 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0082 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0083 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0084 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0085 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0086 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0087 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0088 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0089 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0090 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0091 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0092 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0093 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0094 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0095 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0096 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0097 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0098 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0099 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0100 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0101 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0102 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0103 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0104 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0105 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0106 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0107 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0108 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0109 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0110 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0111 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0112 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0113 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0114 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0115 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0116 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0117 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0118 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0119 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0120 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0121 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0122 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0123 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0124 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0125 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0126 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0127 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0128 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0129 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0130 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0131 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0132 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0133 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0134 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0135 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0136 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0137 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0138 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0139 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0140 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0141 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0142 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0143 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0144 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0145 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0146 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0147 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0148 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0149 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0150 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0151 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0152 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0153 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0154 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0155 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0156 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0157 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0158 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0159 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0160 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0161 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0162 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0163 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0164 1/0 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0165 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0166 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0167 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0168 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0169 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0170 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0171 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0172 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0173 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0174 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0175 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0176 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0177 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0178 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0179 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0180 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0181 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0182 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0183 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0184 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0185 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0186 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0187 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0188 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0189 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0190 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0191 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0192 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0193 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0194 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0195 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0196 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0197 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0198 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0199 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0200 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0201 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0202 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0203 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0204 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0205 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0206 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0207 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0208 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0209 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0210 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0211 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0212 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0213 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0214 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0215 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0216 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0217 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0218 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0219 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0220 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0221 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0222 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0223 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0224 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0225 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0226 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0227 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0228 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0229 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0230 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0231 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0232 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0233 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0234 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0235 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0236 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0237 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0238 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0239 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0240 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0241 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0242 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0243 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0244 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0245 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0246 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0247 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0248 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0249 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0250 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0251 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0252 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0253 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0254 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0255 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0256 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0257 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0258 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0259 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0260 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0261 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0262 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0263 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0264 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0265 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0266 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0267 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0268 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0269 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0270 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0271 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0272 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0273 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0274 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0275 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0276 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0277 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0278 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0279 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0280 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0281 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0282 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0283 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0284 0/1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0285 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0286 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0287 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0288 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0289 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
g0290 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 4506 83 17 15 40 1 10 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0013 0/0 4506 5 2 2 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0023 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0027 0/0 4506 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0035 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0046 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0047 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0002 0/0 4506 34 25 5 1 1 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0019 0/0 4506 2 1 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0021 0/0 4506 2 0 0 1 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0037 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0038 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0003c0003 0/1 4506 33 0 4 21 2 5 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0004c0005 0/0 4506 17 0 1 12 2 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0004c0009 0/0 4506 6 0 0 6 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0004c0012 0/0 4506 5 0 0 2 0 3 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0005c0004 0/0 4506 18 1 2 11 2 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0005c0020 0/0 4506 2 0 0 1 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0005c0045 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0006c0006 0/0 4506 15 5 5 1 4 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0007c0007 0/0 4506 9 8 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0007c0014 0/0 4506 5 5 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0008c0008 0/0 4506 7 0 1 6 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0008c0029 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0009c0010 0/0 4506 5 5 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0010c0011 0/0 4506 5 0 3 0 2 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0011c0015 0/0 4506 3 0 3 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0012c0016 0/0 4506 3 0 1 0 1 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0013c0018 0/0 4506 2 2 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0014c0017 0/0 4506 2 0 0 0 0 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0015c0024 0/0 4506 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0016c0026 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0017c0025 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0018c0044 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0019c0043 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0020c0048 0/0 4506 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0021c0036 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0022c0039 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0023c0034 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0024c0033 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0025c0040 1/0 4506 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0026c0028 0/0 4506 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0027c0030 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0028c0041 0/0 4506 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0029c0031 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0030c0032 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0031c0022 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0032c0042 0/0 4506 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 4863 74 10 14 39 1 10 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0001t0002 0/0 4863 6 6 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0001t0003 0/0 4863 2 1 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0001t0007 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0013t0001 0/0 4863 5 2 2 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0023t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0027t0001 0/0 4863 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0035t0001 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0046t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0001c0047t0001 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0002t0001 0/0 4863 32 23 5 1 1 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0002t0004 0/0 4863 2 2 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0019t0001 0/0 4863 2 1 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0021t0001 0/0 4863 2 0 0 1 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0037t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0002c0038t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0003c0003t0001 0/1 4863 32 0 4 20 2 5 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0003c0003t0008 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0004c0005t0001 0/0 4863 17 0 1 12 2 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0004c0009t0001 0/0 4863 6 0 0 6 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0004c0012t0001 0/0 4863 5 0 0 2 0 3 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0005c0004t0001 0/0 4863 18 1 2 11 2 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0005c0020t0001 0/0 4863 2 0 0 1 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0005c0045t0001 0/0 4863 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0006c0006t0001 0/0 4863 15 5 5 1 4 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0007c0007t0001 0/0 4863 7 6 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0007c0007t0002 0/0 4863 2 2 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0007c0014t0002 0/0 4863 4 4 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0007c0014t0005 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0008c0008t0001 0/0 4863 7 0 1 6 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0008c0029t0001 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0009c0010t0001 0/0 4863 5 5 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0010c0011t0001 0/0 4863 5 0 3 0 2 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0011c0015t0001 0/0 4863 3 0 3 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0012c0016t0001 0/0 4863 2 0 1 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0012c0016t0006 0/0 4863 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0013c0018t0001 0/0 4863 2 2 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0014c0017t0001 0/0 4863 2 0 0 0 0 2 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0015c0024t0001 0/0 4863 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0016c0026t0001 0/0 4863 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0017c0025t0002 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0018c0044t0001 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0019c0043t0001 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0020c0048t0001 0/0 4863 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0021c0036t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0022c0039t0001 0/0 4863 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0023c0034t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0024c0033t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0025c0040t0001 1/0 4863 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0026c0028t0003 0/0 4863 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0027c0030t0009 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0028c0041t0001 0/0 4863 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0029c0031t0002 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0030c0032t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0031c0022t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305
a0032c0042t0001 0/0 4863 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 copy fasta chr22 43523778 43817305

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0024 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0025 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0027 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0028 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0029 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0030 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0032 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0039 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0040 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0041 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0042 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0043 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0044 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0046 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0047 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0048 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0049 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0050 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0051 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0053 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0054 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0055 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0056 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0057 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0059 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0061 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0062 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0063 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0064 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0066 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0069 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0070 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0071 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0073 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0076 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0078 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0079 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0080 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0083 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0084 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0085 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0086 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0087 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0153 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0190 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0191 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0192 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0193 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0194 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0195 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0196 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0197 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0198 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0199 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0200 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0201 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0204 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0205 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0236 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0239 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0255 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0256 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0258 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0001g0285 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0002g0006 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0002g0007 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0002g0008 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0002g0009 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0002g0010 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0002g0013 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0003g0001 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0003g0002 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0001t0007g0238 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0013t0001g0031 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0013t0001g0187 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0013t0001g0188 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0013t0001g0208 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0013t0001g0233 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0023t0001g0254 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0027t0001g0075 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0035t0001g0235 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0046t0001g0067 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0001c0047t0001g0178 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0111 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0115 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0116 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0117 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0118 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0120 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0121 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0122 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0123 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0129 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0133 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0139 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0140 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0141 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0142 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0143 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0144 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0145 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0146 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0147 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0240 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0241 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0242 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0243 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0244 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0245 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0246 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0259 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0261 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0262 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0263 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0001g0264 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0004g0288 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0002t0004g0289 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0019t0001g0124 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0019t0001g0125 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0021t0001g0179 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0021t0001g0250 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0037t0001g0119 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0002c0038t0001g0260 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0023 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0072 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0182 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0183 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0184 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0185 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0186 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0206 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0207 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0209 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0210 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0211 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0212 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0213 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0214 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0215 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0216 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0217 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0218 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0219 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0220 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0222 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0223 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0225 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0226 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0227 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0228 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0229 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0230 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0231 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0232 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0001g0284 0/1 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0003c0003t0008g0287 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0021 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0022 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0088 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0089 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0162 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0165 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0172 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0173 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0174 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0175 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0180 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0247 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0248 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0249 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0251 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0252 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0005t0001g0253 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0009t0001g0166 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0009t0001g0167 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0009t0001g0168 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0009t0001g0170 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0009t0001g0171 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0009t0001g0176 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0012t0001g0019 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0012t0001g0094 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0012t0001g0095 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0012t0001g0097 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0004c0012t0001g0134 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0020 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0093 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0103 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0104 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0105 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0106 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0107 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0108 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0109 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0110 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0127 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0130 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0131 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0132 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0135 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0136 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0137 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0004t0001g0234 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0020t0001g0161 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0020t0001g0169 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0005c0045t0001g0101 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0163 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0257 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0265 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0267 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0268 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0269 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0270 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0271 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0272 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0273 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0276 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0277 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0278 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0279 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0006c0006t0001g0280 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0001g0154 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0001g0155 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0001g0156 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0001g0157 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0001g0158 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0001g0159 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0001g0160 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0002g0004 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0007t0002g0005 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0014t0002g0015 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0014t0002g0016 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0014t0002g0017 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0014t0002g0018 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0007c0014t0005g0014 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0008t0001g0026 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0008t0001g0033 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0008t0001g0035 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0008t0001g0036 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0008t0001g0037 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0008t0001g0038 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0008t0001g0202 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0008c0029t0001g0034 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0009c0010t0001g0148 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0009c0010t0001g0149 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0009c0010t0001g0150 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0009c0010t0001g0151 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0009c0010t0001g0286 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0010c0011t0001g0096 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0010c0011t0001g0098 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0010c0011t0001g0112 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0010c0011t0001g0113 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0010c0011t0001g0114 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0011c0015t0001g0099 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0011c0015t0001g0100 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0011c0015t0001g0102 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0012c0016t0001g0274 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0012c0016t0001g0281 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0012c0016t0006g0266 0/0 1 0 0 0 1 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0013c0018t0001g0090 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0013c0018t0001g0092 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0014c0017t0001g0282 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0014c0017t0001g0283 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0015c0024t0001g0128 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0016c0026t0001g0152 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0017c0025t0002g0011 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0018c0044t0001g0221 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0019c0043t0001g0224 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0020c0048t0001g0177 0/0 1 0 0 1 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0021c0036t0001g0138 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0022c0039t0001g0091 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0023c0034t0001g0082 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0024c0033t0001g0181 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0025c0040t0001g0164 1/0 1 0 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0026c0028t0003g0003 0/0 1 0 0 0 0 1 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0027c0030t0009g0290 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0028c0041t0001g0189 0/0 1 0 1 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0029c0031t0002g0012 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0030c0032t0001g0126 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0031c0022t0001g0237 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
a0032c0042t0001g0275 0/0 1 1 0 0 0 0 EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0010 c0011 t0001 g0098 EUR GBR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00099 hp2 a0004 c0005 t0001 g0162 EUR GBR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00140 hp1 a0004 c0005 t0001 g0172 EUR GBR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00140 hp2 a0012 c0016 t0006 g0266 EUR GBR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00280 hp1 a0001 c0013 t0001 g0188 EUR FIN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00280 hp2 a0001 c0001 t0001 g0050 EUR FIN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00323 hp1 a0005 c0004 t0001 g0135 EUR FIN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00323 hp2 a0006 c0006 t0001 g0265 EUR FIN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00423 hp1 a0003 c0003 t0001 g0210 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00423 hp2 a0001 c0001 t0001 g0080 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00438 hp1 a0004 c0009 t0001 g0171 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00438 hp2 a0003 c0003 t0001 g0228 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00558 hp1 a0004 c0009 t0001 g0170 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00558 hp2 a0001 c0001 t0007 g0238 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00597 hp1 a0003 c0003 t0001 g0220 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00597 hp2 a0001 c0001 t0001 g0058 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00621 hp1 a0001 c0001 t0001 g0043 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00621 hp2 a0004 c0009 t0001 g0167 EAS CHS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00639 hp1 a0001 c0001 t0001 g0197 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00639 hp2 a0012 c0016 t0001 g0281 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00642 hp1 a0001 c0001 t0001 g0066 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00642 hp2 a0010 c0011 t0001 g0113 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00735 hp1 a0008 c0008 t0001 g0202 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG00735 hp2 a0004 c0005 t0001 g0174 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01069 hp1 a0016 c0026 t0001 g0152 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01069 hp2 a0001 c0001 t0001 g0049 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01070 hp1 a0011 c0015 t0001 g0099 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01070 hp2 a0001 c0001 t0001 g0024 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01071 hp1 a0011 c0015 t0001 g0100 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01071 hp2 a0001 c0001 t0001 g0048 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01074 hp1 a0002 c0002 t0001 g0141 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01074 hp2 a0001 c0001 t0001 g0062 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01081 hp1 a0001 c0013 t0001 g0208 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01081 hp2 a0005 c0004 t0001 g0137 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01099 hp1 a0002 c0002 t0001 g0139 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01099 hp2 a0003 c0003 t0001 g0214 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01169 hp1 a0010 c0011 t0001 g0112 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01169 hp2 a0001 c0001 t0001 g0193 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01175 hp1 a0028 c0041 t0001 g0189 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01175 hp2 a0001 c0001 t0001 g0285 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01243 hp1 a0022 c0039 t0001 g0091 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01243 hp2 a0006 c0006 t0001 g0163 AMR PUR EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01255 hp1 a0003 c0003 t0001 g0217 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01255 hp2 a0001 c0001 t0001 g0195 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01257 hp1 a0003 c0003 t0001 g0216 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01257 hp2 a0002 c0002 t0001 g0145 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01258 hp1 a0002 c0002 t0001 g0146 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01258 hp2 a0001 c0013 t0001 g0031 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01261 hp1 a0001 c0001 t0001 g0051 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01261 hp2 a0011 c0015 t0001 g0102 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01346 hp1 a0006 c0006 t0001 g0268 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01346 hp2 a0002 c0002 t0001 g0147 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01433 hp1 a0001 c0001 t0001 g0087 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01433 hp2 a0005 c0045 t0001 g0101 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01496 hp1 a0007 c0007 t0001 g0159 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01496 hp2 a0010 c0011 t0001 g0096 AMR CLM EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01515 hp1 a0002 c0002 t0001 g0142 EUR IBS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01515 hp2 a0006 c0006 t0001 g0277 EUR IBS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01516 hp1 a0003 c0003 t0001 g0211 EUR IBS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01516 hp2 a0010 c0011 t0001 g0114 EUR IBS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01517 hp1 a0003 c0003 t0001 g0212 EUR IBS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01517 hp2 a0006 c0006 t0001 g0278 EUR IBS EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01884 hp1 a0002 c0002 t0001 g0121 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01884 hp2 a0009 c0010 t0001 g0150 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01934 hp1 a0002 c0019 t0001 g0125 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01934 hp2 a0001 c0001 t0001 g0061 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01943 hp1 a0005 c0004 t0001 g0136 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG01943 hp2 a0003 c0003 t0001 g0072 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02004 hp1 a0006 c0006 t0001 g0280 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02004 hp2 a0001 c0001 t0001 g0032 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02040 hp1 a0001 c0001 t0001 g0190 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02040 hp2 a0005 c0004 t0001 g0132 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02055 hp1 a0029 c0031 t0002 g0012 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02055 hp2 a0001 c0001 t0001 g0258 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02074 hp1 a0004 c0005 t0001 g0088 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02074 hp2 a0003 c0003 t0008 g0287 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02083 hp1 a0004 c0012 t0001 g0019 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02083 hp2 a0008 c0008 t0001 g0037 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02135 hp1 a0004 c0005 t0001 g0021 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02135 hp2 a0005 c0004 t0001 g0108 EAS KHV EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02145 hp1 a0002 c0002 t0001 g0116 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02145 hp2 a0001 c0001 t0001 g0198 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02155 hp1 a0001 c0001 t0001 g0045 EAS CDX EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02155 hp2 a0003 c0003 t0001 g0218 EAS CDX EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02257 hp1 a0005 c0004 t0001 g0093 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02257 hp2 a0006 c0006 t0001 g0272 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02280 hp1 a0009 c0010 t0001 g0149 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02280 hp2 a0002 c0019 t0001 g0124 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02293 hp1 a0006 c0006 t0001 g0279 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02293 hp2 a0001 c0001 t0003 g0002 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02300 hp1 a0006 c0006 t0001 g0276 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02300 hp2 a0001 c0001 t0001 g0196 AMR PEL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02451 hp1 a0001 c0013 t0001 g0187 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02451 hp2 a0002 c0002 t0001 g0115 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02572 hp1 a0007 c0014 t0002 g0017 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02572 hp2 a0017 c0025 t0002 g0011 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02602 hp1 a0001 c0001 t0001 g0054 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02602 hp2 a0002 c0002 t0001 g0143 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02615 hp1 a0002 c0002 t0001 g0246 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02615 hp2 a0001 c0001 t0002 g0013 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02622 hp1 a0001 c0023 t0001 g0254 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02622 hp2 a0002 c0038 t0001 g0260 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02630 hp1 a0013 c0018 t0001 g0092 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02630 hp2 a0009 c0010 t0001 g0148 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02683 hp1 a0012 c0016 t0001 g0274 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02683 hp2 a0004 c0005 t0001 g0173 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02698 hp1 a0002 c0021 t0001 g0250 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02698 hp2 a0001 c0001 t0001 g0046 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02717 hp1 a0030 c0032 t0001 g0126 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02717 hp2 a0001 c0001 t0002 g0010 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02723 hp1 a0007 c0007 t0001 g0157 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02723 hp2 a0002 c0002 t0001 g0263 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02735 hp1 a0001 c0001 t0001 g0053 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02735 hp2 a0003 c0003 t0001 g0226 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02738 hp1 a0026 c0028 t0003 g0003 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02738 hp2 a0001 c0001 t0001 g0192 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02809 hp1 a0002 c0002 t0001 g0129 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02809 hp2 a0001 c0001 t0002 g0008 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02818 hp1 a0001 c0001 t0001 g0236 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02818 hp2 a0001 c0001 t0003 g0001 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02886 hp1 a0001 c0046 t0001 g0067 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02886 hp2 a0002 c0002 t0001 g0133 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02895 hp1 a0007 c0007 t0001 g0155 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02895 hp2 a0001 c0001 t0002 g0006 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02896 hp1 a0002 c0002 t0001 g0243 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02896 hp2 a0002 c0002 t0001 g0118 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02897 hp1 a0002 c0002 t0001 g0242 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02897 hp2 a0007 c0007 t0001 g0154 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02922 hp1 a0006 c0006 t0001 g0257 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02922 hp2 a0002 c0002 t0001 g0264 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02965 hp1 a0001 c0001 t0002 g0009 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02965 hp2 a0007 c0007 t0001 g0156 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02970 hp1 a0006 c0006 t0001 g0270 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02970 hp2 a0002 c0002 t0001 g0262 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02976 hp1 a0002 c0002 t0001 g0123 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02976 hp2 a0002 c0002 t0001 g0259 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03017 hp1 a0001 c0001 t0001 g0256 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03017 hp2 a0001 c0001 t0001 g0191 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03041 hp1 a0002 c0002 t0001 g0111 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03041 hp2 a0024 c0033 t0001 g0181 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03098 hp1 a0006 c0006 t0001 g0271 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03098 hp2 a0007 c0007 t0001 g0160 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03130 hp1 a0002 c0002 t0004 g0289 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03130 hp2 a0021 c0036 t0001 g0138 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03139 hp1 a0001 c0001 t0002 g0007 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03139 hp2 a0007 c0014 t0002 g0018 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03195 hp1 a0002 c0002 t0001 g0241 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03195 hp2 a0023 c0034 t0001 g0082 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03209 hp1 a0001 c0001 t0001 g0085 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03209 hp2 a0001 c0013 t0001 g0233 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03453 hp1 a0006 c0006 t0001 g0273 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03453 hp2 a0007 c0007 t0001 g0158 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03486 hp1 a0002 c0002 t0001 g0244 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03486 hp2 a0032 c0042 t0001 g0275 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03491 hp1 a0005 c0004 t0001 g0107 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03491 hp2 a0014 c0017 t0001 g0282 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03492 hp1 a0014 c0017 t0001 g0283 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03492 hp2 a0001 c0001 t0001 g0055 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03516 hp1 a0007 c0007 t0002 g0005 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03516 hp2 a0002 c0002 t0001 g0245 AFR ESN EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03540 hp1 a0002 c0002 t0001 g0240 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03540 hp2 a0002 c0002 t0001 g0117 AFR GWD EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03579 hp1 a0027 c0030 t0009 g0290 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03579 hp2 a0002 c0002 t0001 g0120 AFR MSL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03654 hp1 a0002 c0002 t0001 g0140 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03654 hp2 a0003 c0003 t0001 g0206 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03669 hp1 a0003 c0003 t0001 g0215 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03669 hp2 a0005 c0004 t0001 g0127 SAS PJL EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03834 hp1 a0001 c0001 t0001 g0039 SAS BEB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03834 hp2 a0004 c0012 t0001 g0094 SAS BEB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03942 hp1 a0004 c0012 t0001 g0095 SAS BEB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG03942 hp2 a0003 c0003 t0001 g0232 SAS BEB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG04115 hp1 a0001 c0001 t0001 g0025 SAS STU EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG04115 hp2 a0015 c0024 t0001 g0128 SAS STU EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG04199 hp1 a0004 c0012 t0001 g0134 SAS STU EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG04199 hp2 a0005 c0020 t0001 g0161 SAS STU EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG04228 hp1 a0003 c0003 t0001 g0213 SAS STU EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG04228 hp2 a0001 c0027 t0001 g0075 SAS STU EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18522 hp1 a0001 c0001 t0001 g0153 AFR YRI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18522 hp2 a0009 c0010 t0001 g0286 AFR YRI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18906 hp1 a0007 c0007 t0002 g0004 AFR YRI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18906 hp2 a0002 c0002 t0001 g0122 AFR YRI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18939 hp1 a0001 c0001 t0001 g0081 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18939 hp2 a0001 c0001 t0001 g0074 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18941 hp1 a0004 c0005 t0001 g0022 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18941 hp2 a0001 c0001 t0001 g0044 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18942 hp1 a0008 c0008 t0001 g0033 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18942 hp2 a0001 c0001 t0001 g0078 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18943 hp1 a0008 c0008 t0001 g0035 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18943 hp2 a0001 c0001 t0001 g0076 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18944 hp1 a0003 c0003 t0001 g0207 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18944 hp2 a0005 c0004 t0001 g0109 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18945 hp1 a0004 c0005 t0001 g0249 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18945 hp2 a0001 c0001 t0001 g0079 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18946 hp1 a0005 c0004 t0001 g0105 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18946 hp2 a0001 c0001 t0001 g0047 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18947 hp1 a0001 c0001 t0001 g0029 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18947 hp2 a0005 c0004 t0001 g0110 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18950 hp1 a0001 c0001 t0001 g0042 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18950 hp2 a0003 c0003 t0001 g0184 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18951 hp1 a0004 c0005 t0001 g0253 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18951 hp2 a0001 c0035 t0001 g0235 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18954 hp1 a0006 c0006 t0001 g0269 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18954 hp2 a0008 c0008 t0001 g0036 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18957 hp1 a0001 c0001 t0001 g0065 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18957 hp2 a0005 c0004 t0001 g0130 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18960 hp1 a0001 c0001 t0001 g0027 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18960 hp2 a0004 c0009 t0001 g0176 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18961 hp1 a0003 c0003 t0001 g0229 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18961 hp2 a0005 c0004 t0001 g0131 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18962 hp1 a0004 c0005 t0001 g0251 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18962 hp2 a0001 c0001 t0001 g0030 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18963 hp1 a0001 c0001 t0001 g0199 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18963 hp2 a0004 c0005 t0001 g0247 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18965 hp1 a0001 c0001 t0001 g0028 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18965 hp2 a0005 c0004 t0001 g0020 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18967 hp1 a0001 c0001 t0001 g0255 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18967 hp2 a0002 c0021 t0001 g0179 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18972 hp1 a0019 c0043 t0001 g0224 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18972 hp2 a0001 c0001 t0001 g0068 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18974 hp1 a0001 c0001 t0001 g0071 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18974 hp2 a0003 c0003 t0001 g0231 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18979 hp1 a0003 c0003 t0001 g0182 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18979 hp2 a0001 c0001 t0001 g0069 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18983 hp1 a0004 c0012 t0001 g0097 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18983 hp2 a0005 c0020 t0001 g0169 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18984 hp1 a0001 c0001 t0001 g0073 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18984 hp2 a0005 c0004 t0001 g0104 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18999 hp1 a0001 c0001 t0001 g0205 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA18999 hp2 a0004 c0009 t0001 g0168 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19000 hp1 a0004 c0005 t0001 g0252 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19000 hp2 a0001 c0001 t0001 g0059 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19004 hp1 a0003 c0003 t0001 g0222 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19004 hp2 a0001 c0001 t0001 g0060 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19005 hp1 a0001 c0001 t0001 g0200 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19005 hp2 a0003 c0003 t0001 g0209 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19007 hp1 a0002 c0002 t0001 g0144 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19007 hp2 a0004 c0005 t0001 g0089 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19009 hp1 a0001 c0001 t0001 g0203 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19009 hp2 a0003 c0003 t0001 g0227 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19010 hp1 a0020 c0048 t0001 g0177 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19010 hp2 a0008 c0008 t0001 g0026 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19011 hp1 a0008 c0029 t0001 g0034 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19011 hp2 a0001 c0001 t0001 g0077 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19030 hp1 a0009 c0010 t0001 g0151 AFR LWK EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19030 hp2 a0007 c0014 t0002 g0015 AFR LWK EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19043 hp1 a0001 c0001 t0001 g0086 AFR LWK EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19043 hp2 a0007 c0014 t0005 g0014 AFR LWK EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19057 hp1 a0001 c0001 t0001 g0040 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19057 hp2 a0003 c0003 t0001 g0230 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19060 hp1 a0004 c0005 t0001 g0248 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19060 hp2 a0003 c0003 t0001 g0185 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19064 hp1 a0001 c0001 t0001 g0063 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19064 hp2 a0004 c0009 t0001 g0166 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19066 hp1 a0001 c0001 t0001 g0064 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19066 hp2 a0003 c0003 t0001 g0023 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19070 hp1 a0005 c0004 t0001 g0103 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19070 hp2 a0001 c0001 t0001 g0201 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19077 hp1 a0001 c0001 t0001 g0041 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19077 hp2 a0003 c0003 t0001 g0219 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19079 hp1 a0008 c0008 t0001 g0038 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19079 hp2 a0004 c0005 t0001 g0165 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19080 hp1 a0001 c0047 t0001 g0178 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19080 hp2 a0003 c0003 t0001 g0186 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19081 hp1 a0001 c0001 t0001 g0057 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19081 hp2 a0018 c0044 t0001 g0221 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19083 hp1 a0001 c0001 t0001 g0070 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19083 hp2 a0003 c0003 t0001 g0183 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19084 hp1 a0001 c0001 t0001 g0204 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19084 hp2 a0003 c0003 t0001 g0225 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19087 hp1 a0001 c0001 t0001 g0056 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19087 hp2 a0004 c0005 t0001 g0180 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19091 hp1 a0005 c0004 t0001 g0106 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19091 hp2 a0003 c0003 t0001 g0223 EAS JPT EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19240 hp1 a0002 c0002 t0004 g0288 AFR YRI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA19240 hp2 a0001 c0001 t0001 g0084 AFR YRI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA20129 hp1 a0013 c0018 t0001 g0090 AFR ASW EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA20129 hp2 a0031 c0022 t0001 g0237 AFR ASW EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA20805 hp1 a0005 c0004 t0001 g0234 EUR TSI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA20805 hp2 a0006 c0006 t0001 g0267 EUR TSI EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA20905 hp1 a0004 c0005 t0001 g0175 SAS GIH EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
NA20905 hp2 a0001 c0001 t0001 g0194 SAS GIH EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02109 hp1 a0007 c0014 t0002 g0016 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02109 hp2 a0001 c0001 t0001 g0239 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02559 hp1 a0002 c0037 t0001 g0119 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG02559 hp2 a0002 c0002 t0001 g0261 AFR ACB EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG06807 hp1 a0001 c0001 t0001 g0083 AFR USA EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
HG06807 hp2 a0001 c0001 t0001 g0052 AFR USA EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
homoSapiens_chm13v2 hp1 a0003 c0003 t0001 g0284 REF REF EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305
homoSapiens_grch38 hp1 a0025 c0040 t0001 g0164 REF REF EFCAB6_chr22_43523778_43817305 EFCAB6 chr22 43523778 43817305

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
chr22:43530861 T
T
 C
C
 1 a0019
a0019
 1 NA18972.hp1
NA18972.hp1
 missense_variant MODERATE c.4337A>G
c.4337A>G
 p.Tyr1446Cys
p.Tyr1446Cys
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/32 4619/4863 4337/4506 1446/1501 chr22 43530861
chr22:43537449 G
G
 A
A
 1 a0027
a0027
 1 HG03579.hp1
HG03579.hp1
 missense_variant MODERATE c.3976C>T
c.3976C>T
 p.Arg1326Cys
p.Arg1326Cys
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/32 4258/4863 3976/4506 1326/1501 chr22 43537449
chr22:43537477 C
C
 A
A
 1 a0011
a0011
 3 HG01070.hp1
HG01071.hp1
HG01261.hp2
HG01070.hp1
HG01071.hp1
HG01261.hp2
 missense_variant MODERATE c.3948G>T
c.3948G>T
 p.Arg1316Ser
p.Arg1316Ser
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/32 4230/4863 3948/4506 1316/1501 chr22 43537477
chr22:43540237 C
C
 T
T
 1 a0008
a0008
 8 HG00735.hp1
HG02083.hp2
NA18942.hp1
others(5): Show 
HG00735.hp1
HG02083.hp2
NA18942.hp1
NA18943.hp1
NA18954.hp2
NA19010.hp2
NA19011.hp1
NA19079.hp1
 missense_variant MODERATE c.3769G>A
c.3769G>A
 p.Val1257Met
p.Val1257Met
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/32 4051/4863 3769/4506 1257/1501 chr22 43540237
chr22:43540339 C
C
 T
T
 7 a0005
a0009
a0011
others(4): Show 
a0005
a0009
a0011
a0014
a0015
a0026
a0028
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 missense_variant MODERATE c.3667G>A
c.3667G>A
 p.Glu1223Lys
p.Glu1223Lys
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/32 3949/4863 3667/4506 1223/1501 chr22 43540339
chr22:43554973 T
T
 G
G
 1 a0010
a0010
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 missense_variant MODERATE c.3544A>C
c.3544A>C
 p.Thr1182Pro
p.Thr1182Pro
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/32 3826/4863 3544/4506 1182/1501 chr22 43554973
chr22:43555069 G
G
 A
A
 1 a0014
a0014
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 missense_variant MODERATE c.3448C>T
c.3448C>T
 p.Pro1150Ser
p.Pro1150Ser
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/32 3730/4863 3448/4506 1150/1501 chr22 43555069
chr22:43576424 A
A
 C
C
 1 a0020
a0020
 1 NA19010.hp1
NA19010.hp1
 missense_variant MODERATE c.3293T>G
c.3293T>G
 p.Leu1098Arg
p.Leu1098Arg
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/32 3575/4863 3293/4506 1098/1501 chr22 43576424
chr22:43580516 G
G
 A
A
 21 a0001
a0002
a0003
others(18): Show 
a0001
a0002
a0003
a0006
a0008
a0010
a0012
a0013
a0014
a0017
a0018
a0019
a0021
a0023
a0024
a0027
a0028
a0029
a0030
a0031
a0032
 213 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(210): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.3176C>T
c.3176C>T
 p.Ala1059Val
p.Ala1059Val
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/32 3458/4863 3176/4506 1059/1501 chr22 43580516
chr22:43580534 G
G
 A
A
 1 a0031
a0031
 1 NA20129.hp2
NA20129.hp2
 missense_variant MODERATE c.3158C>T
c.3158C>T
 p.Thr1053Met
p.Thr1053Met
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/32 3440/4863 3158/4506 1053/1501 chr22 43580534
chr22:43580543 T
T
 C
C
 1 a0032
a0032
 1 HG03486.hp2
HG03486.hp2
 missense_variant MODERATE c.3149A>G
c.3149A>G
 p.Asn1050Ser
p.Asn1050Ser
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/32 3431/4863 3149/4506 1050/1501 chr22 43580543
chr22:43600202 T
T
 C
C
 1 a0018
a0018
 1 NA19081.hp2
NA19081.hp2
 missense_variant MODERATE c.2743A>G
c.2743A>G
 p.Asn915Asp
p.Asn915Asp
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/32 3025/4863 2743/4506 915/1501 chr22 43600202
chr22:43626451 T
T
 G
G
 1 a0029
a0029
 1 HG02055.hp1
HG02055.hp1
 missense_variant MODERATE c.2461A>C
c.2461A>C
 p.Ile821Leu
p.Ile821Leu
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/32 2743/4863 2461/4506 821/1501 chr22 43626451
chr22:43626514 G
G
 A
A
 3 a0007
a0022
a0030
a0007
a0022
a0030
 16 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(13): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 missense_variant MODERATE c.2398C>T
c.2398C>T
 p.Arg800Trp
p.Arg800Trp
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/32 2680/4863 2398/4506 800/1501 chr22 43626514
chr22:43626574 C
C
 T
T
 1 a0013
a0013
 2 HG02630.hp1
NA20129.hp1
HG02630.hp1
NA20129.hp1
 missense_variant MODERATE c.2338G>A
c.2338G>A
 p.Asp780Asn
p.Asp780Asn
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/32 2620/4863 2338/4506 780/1501 chr22 43626574
chr22:43632205 G
G
 A
A
 1 a0024
a0024
 1 HG03041.hp2
HG03041.hp2
 missense_variant MODERATE c.2132C>T
c.2132C>T
 p.Pro711Leu
p.Pro711Leu
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/32 2414/4863 2132/4506 711/1501 chr22 43632205
chr22:43635147 C
C
 T
T
 1 a0031
a0031
 1 NA20129.hp2
NA20129.hp2
 missense_variant MODERATE c.2053G>A
c.2053G>A
 p.Glu685Lys
p.Glu685Lys
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/32 2335/4863 2053/4506 685/1501 chr22 43635147
chr22:43635162 T
T
 C
C
 1 a0012
a0012
 3 HG00140.hp2
HG00639.hp2
HG02683.hp1
HG00140.hp2
HG00639.hp2
HG02683.hp1
 missense_variant MODERATE c.2038A>G
c.2038A>G
 p.Thr680Ala
p.Thr680Ala
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/32 2320/4863 2038/4506 680/1501 chr22 43635162
chr22:43635186 C
C
 T
T
 1 a0021
a0021
 1 HG03130.hp2
HG03130.hp2
 missense_variant MODERATE c.2014G>A
c.2014G>A
 p.Asp672Asn
p.Asp672Asn
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/32 2296/4863 2014/4506 672/1501 chr22 43635186
chr22:43678141 C
C
 A
A
 1 a0023
a0023
 1 HG03195.hp2
HG03195.hp2
 missense_variant MODERATE c.1274G>T
c.1274G>T
 p.Arg425Ile
p.Arg425Ile
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/32 1556/4863 1274/4506 425/1501 chr22 43678141
chr22:43683800 G
G
 A
A
 3 a0006
a0012
a0032
a0006
a0012
a0032
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 missense_variant MODERATE c.1198C>T
c.1198C>T
 p.His400Tyr
p.His400Tyr
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/32 1480/4863 1198/4506 400/1501 chr22 43683800
chr22:43683848 A
A
 C
C
 2 a0013
a0022
a0013
a0022
 3 HG01243.hp1
HG02630.hp1
NA20129.hp1
HG01243.hp1
HG02630.hp1
NA20129.hp1
 missense_variant MODERATE c.1150T>G
c.1150T>G
 p.Ser384Ala
p.Ser384Ala
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/32 1432/4863 1150/4506 384/1501 chr22 43683848
chr22:43687562 T
T
 C
C
 10 a0002
a0004
a0005
others(7): Show 
a0002
a0004
a0005
a0009
a0010
a0011
a0015
a0016
a0020
a0021
 106 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(103): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 missense_variant MODERATE c.1051A>G
c.1051A>G
 p.Thr351Ala
p.Thr351Ala
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/32 1333/4863 1051/4506 351/1501 chr22 43687562
chr22:43735906 T
T
 C
C
 3 a0003
a0018
a0019
a0003
a0018
a0019
 35 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(32): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.595A>G
c.595A>G
 p.Arg199Gly
p.Arg199Gly
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/32 877/4863 595/4506 199/1501 chr22 43735906
chr22:43735923 C
C
 T
T
 1 a0014
a0014
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 missense_variant MODERATE c.578G>A
c.578G>A
 p.Arg193Gln
p.Arg193Gln
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/32 860/4863 578/4506 193/1501 chr22 43735923
chr22:43755776 A
A
 G
G
 3 a0009
a0016
a0017
a0009
a0016
a0017
 7 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(4): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp2
NA18522.hp2
NA19030.hp1
 missense_variant MODERATE c.497T>C
c.497T>C
 p.Val166Ala
p.Val166Ala
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/32 779/4863 497/4506 166/1501 chr22 43755776
chr22:43773055 A
A
 G
G
 1 a0014
a0014
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 missense_variant MODERATE c.188T>C
c.188T>C
 p.Ile63Thr
p.Ile63Thr
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/32 470/4863 188/4506 63/1501 chr22 43773055
chr22:43782248 C
C
 T
T
 1 a0015
a0015
 1 HG04115.hp2
HG04115.hp2
 missense_variant MODERATE c.71G>A
c.71G>A
 p.Arg24Lys
p.Arg24Lys
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/32 353/4863 71/4506 24/1501 chr22 43782248

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
chr22:43528880 G
G
 A
A
 1 a0002c0038
a0002c0038
 1 HG02622.hp2
HG02622.hp2
 synonymous_variant LOW c.4479C>T
c.4479C>T
 p.Asn1493Asn
p.Asn1493Asn
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 32/32 4761/4863 4479/4506 1493/1501 chr22 43528880
chr22:43530845 T
T
 C
C
 1 a0024c0033
a0024c0033
 1 HG03041.hp2
HG03041.hp2
 synonymous_variant LOW c.4353A>G
c.4353A>G
 p.Thr1451Thr
p.Thr1451Thr
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/32 4635/4863 4353/4506 1451/1501 chr22 43530845
chr22:43537528 G
G
 A
A
 1 a0004c0009
a0004c0009
 6 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(3): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
NA18960.hp2
NA18999.hp2
NA19064.hp2
 synonymous_variant LOW c.3897C>T
c.3897C>T
 p.Thr1299Thr
p.Thr1299Thr
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/32 4179/4863 3897/4506 1299/1501 chr22 43537528
chr22:43540241 C
C
 T
T
 1 a0002c0037
a0002c0037
 1 HG02559.hp1
HG02559.hp1
 synonymous_variant LOW c.3765G>A
c.3765G>A
 p.Ser1255Ser
p.Ser1255Ser
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/32 4047/4863 3765/4506 1255/1501 chr22 43540241
chr22:43554920 C
C
 T
T
 1 a0008c0029
a0008c0029
 1 NA19011.hp1
NA19011.hp1
 synonymous_variant LOW c.3597G>A
c.3597G>A
 p.Glu1199Glu
p.Glu1199Glu
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/32 3879/4863 3597/4506 1199/1501 chr22 43554920
chr22:43632207 C
C
 T
T
 1 a0014c0017
a0014c0017
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 synonymous_variant LOW c.2130G>A
c.2130G>A
 p.Pro710Pro
p.Pro710Pro
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/32 2412/4863 2130/4506 710/1501 chr22 43632207
chr22:43683765 T
T
 C
C
 5 a0004c0012
a0005c0004
a0005c0045
others(2): Show 
a0004c0012
a0005c0004
a0005c0045
a0011c0015
a0015c0024
 28 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(25): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01261.hp2
HG01433.hp2
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02257.hp1
HG03491.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
NA20805.hp1
 synonymous_variant LOW c.1233A>G
c.1233A>G
 p.Ala411Ala
p.Ala411Ala
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/32 1515/4863 1233/4506 411/1501 chr22 43683765
chr22:43683780 C
C
 T
T
 1 a0001c0027
a0001c0027
 1 HG04228.hp2
HG04228.hp2
 synonymous_variant LOW c.1218G>A
c.1218G>A
 p.Ala406Ala
p.Ala406Ala
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/32 1500/4863 1218/4506 406/1501 chr22 43683780
chr22:43687538 G
G
 A
A
 1 a0001c0035
a0001c0035
 1 NA18951.hp2
NA18951.hp2
 synonymous_variant LOW c.1075C>T
c.1075C>T
 p.Leu359Leu
p.Leu359Leu
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/32 1357/4863 1075/4506 359/1501 chr22 43687538
chr22:43711591 G
G
 A
A
 1 a0007c0014
a0007c0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 synonymous_variant LOW c.915C>T
c.915C>T
 p.Ala305Ala
p.Ala305Ala
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/32 1197/4863 915/4506 305/1501 chr22 43711591
chr22:43716965 C
C
 T
T
 35 a0001c0001
a0001c0023
a0001c0027
others(32): Show 
a0001c0001
a0001c0023
a0001c0027
a0001c0035
a0001c0046
a0001c0047
a0002c0002
a0002c0019
a0002c0021
a0002c0037
a0002c0038
a0004c0005
a0004c0009
a0004c0012
a0005c0004
a0005c0020
a0005c0045
a0007c0007
a0008c0008
a0008c0029
a0009c0010
a0010c0011
a0011c0015
a0015c0024
a0016c0026
a0017c0025
a0020c0048
a0021c0036
a0023c0034
a0024c0033
a0026c0028
a0027c0030
a0029c0031
a0030c0032
a0031c0022
 219 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(216): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 synonymous_variant LOW c.765G>A
c.765G>A
 p.Ser255Ser
p.Ser255Ser
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/32 1047/4863 765/4506 255/1501 chr22 43716965
chr22:43731763 G
G
 A
A
 1 a0002c0019
a0002c0019
 2 HG01934.hp1
HG02280.hp2
HG01934.hp1
HG02280.hp2
 synonymous_variant LOW c.693C>T
c.693C>T
 p.Asn231Asn
p.Asn231Asn
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/32 975/4863 693/4506 231/1501 chr22 43731763
chr22:43735930 G
G
 A
A
 1 a0005c0045
a0005c0045
 1 HG01433.hp2
HG01433.hp2
 synonymous_variant LOW c.571C>T
c.571C>T
 p.Leu191Leu
p.Leu191Leu
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/32 853/4863 571/4506 191/1501 chr22 43735930
chr22:43773075 G
G
 A
A
 1 a0001c0046
a0001c0046
 1 HG02886.hp1
HG02886.hp1
 synonymous_variant LOW c.168C>T
c.168C>T
 p.Ser56Ser
p.Ser56Ser
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/32 450/4863 168/4506 56/1501 chr22 43773075
chr22:43782223 T
T
 C
C
 6 a0001c0047
a0002c0021
a0004c0005
others(3): Show 
a0001c0047
a0002c0021
a0004c0005
a0004c0009
a0005c0020
a0020c0048
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 synonymous_variant LOW c.96A>G
c.96A>G
 p.Val32Val
p.Val32Val
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/32 378/4863 96/4506 32/1501 chr22 43782223
chr22:43782280 C
C
 T
T
 2 a0001c0023
a0031c0022
a0001c0023
a0031c0022
 2 HG02622.hp1
NA20129.hp2
HG02622.hp1
NA20129.hp2
 synonymous_variant LOW c.39G>A
c.39G>A
 p.Ser13Ser
p.Ser13Ser
 EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/32 321/4863 39/4506 13/1501 chr22 43782280

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
chr22:43809038 A
A
 C
C
 1 a0012c0016t0006
a0012c0016t0006
 1 HG00140.hp2
HG00140.hp2
 5_prime_UTR_variant MODIFIER c.-51T>G
c.-51T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/32 26720 chr22 43809038
chr22:43809104 A
A
 G
G
 1 a0007c0014t0005
a0007c0014t0005
 1 NA19043.hp2
NA19043.hp2
 5_prime_UTR_variant MODIFIER c.-117T>C
c.-117T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/32 26786 chr22 43809104
chr22:43809117 C
C
 A
A
 1 a0001c0001t0007
a0001c0001t0007
 1 HG00558.hp2
HG00558.hp2
 5_prime_UTR_variant MODIFIER c.-130G>T
c.-130G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/32 26799 chr22 43809117
chr22:43812172 A
A
 G
G
 6 a0001c0001t0002
a0007c0007t0002
a0007c0014t0002
others(3): Show 
a0001c0001t0002
a0007c0007t0002
a0007c0014t0002
a0007c0014t0005
a0017c0025t0002
a0029c0031t0002
 15 HG02055.hp1
HG02109.hp1
HG02572.hp1
others(12): Show 
HG02055.hp1
HG02109.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 5_prime_UTR_variant MODIFIER c.-149T>C
c.-149T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/32 29854 chr22 43812172
chr22:43812206 C
C
 A
A
 1 a0003c0003t0008
a0003c0003t0008
 1 HG02074.hp2
HG02074.hp2
 5_prime_UTR_variant MODIFIER c.-183G>T
c.-183G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/32 29888 chr22 43812206
chr22:43812244 G
G
 C
C
 1 a0002c0002t0004
a0002c0002t0004
 2 HG03130.hp1
NA19240.hp1
HG03130.hp1
NA19240.hp1
 5_prime_UTR_variant MODIFIER c.-221C>G
c.-221C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/32 29926 chr22 43812244
chr22:43812264 T
T
 C
C
 1 a0027c0030t0009
a0027c0030t0009
 1 HG03579.hp1
HG03579.hp1
 5_prime_UTR_variant MODIFIER c.-241A>G
c.-241A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/32 29946 chr22 43812264
chr22:43812282 G
G
 T
T
 2 a0001c0001t0003
a0026c0028t0003
a0001c0001t0003
a0026c0028t0003
 3 HG02293.hp2
HG02738.hp1
HG02818.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
 5_prime_UTR_variant MODIFIER c.-259C>A
c.-259C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/32 29964 chr22 43812282

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
chr22:43529063 T
T
 C
C
 2 a0007c0014t0002g0015
a0007c0014t0005g0014
a0007c0014t0002g0015
a0007c0014t0005g0014
 2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.4384-88A>G
c.4384-88A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43529063
chr22:43529111 G
G
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.4384-136C>T
c.4384-136C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43529111
chr22:43529210 G
G
 A
A
 161 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(158): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 161 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(158): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.4384-235C>T
c.4384-235C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43529210
chr22:43529339 C
C
 T
T
 1 a0002c0002t0001g0123
a0002c0002t0001g0123
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.4384-364G>A
c.4384-364G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43529339
chr22:43529611 G
G
 C
C
 11 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(8): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0027c0030t0009g0290
a0029c0031t0002g0012
 11 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(8): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.4384-636C>G
c.4384-636C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43529611
chr22:43529780 A
A
 G
G
 14 a0001c0001t0001g0087
a0007c0007t0001g0154
a0007c0007t0001g0155
others(11): Show 
a0001c0001t0001g0087
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0022c0039t0001g0091
a0031c0022t0001g0237
 14 HG01243.hp1
HG01433.hp1
HG01496.hp1
others(11): Show 
HG01243.hp1
HG01433.hp1
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.4384-805T>C
c.4384-805T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43529780
chr22:43530130 G
G
 C
C
 36 a0001c0001t0001g0153
a0001c0001t0001g0258
a0001c0013t0001g0233
others(33): Show 
a0001c0001t0001g0153
a0001c0001t0001g0258
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0032c0042t0001g0275
 36 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(33): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02055.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp2
HG03540.hp2
NA18522.hp1
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.4383+685C>G
c.4383+685C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43530130
chr22:43530231 G
G
 A
A
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.4383+584C>T
c.4383+584C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43530231
chr22:43530309 G
G
 T
T
 1 a0002c0002t0001g0245
a0002c0002t0001g0245
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.4383+506C>A
c.4383+506C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43530309
chr22:43530484 G
G
 A
A
 219 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(216): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0012t0001g0019
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 219 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(216): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.4383+331C>T
c.4383+331C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43530484
chr22:43530771 G
G
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.4383+44C>A
c.4383+44C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 31/31 chr22 43530771
chr22:43530965 C
C
 T
T
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 splice_acceptor_variant&intron_variant HIGH c.4234-1G>A
c.4234-1G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43530965
chr22:43530977 CAAGAAGG
others(3): Show 
CAAGAAGGGGT
 C
C
 9 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
others(6): Show 
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
 9 HG01346.hp1
HG01515.hp2
HG01517.hp2
others(6): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG03453.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.4234-23_4234-14del
others(10): Show 
c.4234-23_4234-14delACCCCTTCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43530977
chr22:43531085 C
C
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.4234-121G>A
c.4234-121G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531085
chr22:43531087 G
G
 A
A
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.4234-123C>T
c.4234-123C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531087
chr22:43531154 A
A
 G
G
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4234-190T>C
c.4234-190T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531154
chr22:43531362 T
T
 C
C
 202 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(199): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0012t0001g0019
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 202 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(199): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.4234-398A>G
c.4234-398A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531362
chr22:43531440 G
G
 A
A
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.4234-476C>T
c.4234-476C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531440
chr22:43531466 T
T
 A
A
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.4234-502A>T
c.4234-502A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531466
chr22:43531557 A
A
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.4234-593T>A
c.4234-593T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531557
chr22:43531609 T
T
 G
G
 2 a0001c0035t0001g0235
a0003c0003t0001g0219
a0001c0035t0001g0235
a0003c0003t0001g0219
 2 NA18951.hp2
NA19077.hp2
NA18951.hp2
NA19077.hp2
 intron_variant MODIFIER c.4234-645A>C
c.4234-645A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531609
chr22:43531908 A
A
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.4234-944T>A
c.4234-944T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43531908
chr22:43532005 T
T
 G
G
 11 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(8): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0027c0030t0009g0290
a0029c0031t0002g0012
 11 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(8): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.4234-1041A>C
c.4234-1041A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532005
chr22:43532085 T
T
 A
A
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4234-1121A>T
c.4234-1121A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532085
chr22:43532154 A
A
 G
G
 8 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0074
 8 HG01074.hp2
HG01934.hp2
NA18939.hp2
others(5): Show 
HG01074.hp2
HG01934.hp2
NA18939.hp2
NA18957.hp1
NA18984.hp1
NA19004.hp2
NA19064.hp1
NA19066.hp1
 intron_variant MODIFIER c.4234-1190T>C
c.4234-1190T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532154
chr22:43532178 G
G
 T
T
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4234-1214C>A
c.4234-1214C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532178
chr22:43532362 C
C
 T
T
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.4234-1398G>A
c.4234-1398G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532362
chr22:43532380 T
T
 A
A
 10 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
others(7): Show 
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0021c0036t0001g0138
 10 HG01346.hp1
HG01515.hp2
HG01517.hp2
others(7): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG03130.hp2
HG03453.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.4234-1416A>T
c.4234-1416A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532380
chr22:43532580 C
C
 CT
CT
 15 a0001c0001t0001g0087
a0001c0023t0001g0254
a0007c0007t0001g0154
others(12): Show 
a0001c0001t0001g0087
a0001c0023t0001g0254
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0022c0039t0001g0091
a0031c0022t0001g0237
 15 HG01243.hp1
HG01433.hp1
HG01496.hp1
others(12): Show 
HG01243.hp1
HG01433.hp1
HG01496.hp1
HG02622.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.4234-1617dupA
c.4234-1617dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532580
chr22:43532580 CT
CT
 C
C
 101 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(98): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0047t0001g0178
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0012t0001g0019
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0020t0001g0169
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0020c0048t0001g0177
a0021c0036t0001g0138
 101 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(98): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02976.hp1
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03453.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG04115.hp1
HG04199.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.4234-1617delA
c.4234-1617delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532580
chr22:43532595 T
T
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.4234-1631A>T
c.4234-1631A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532595
chr22:43532840 C
C
 T
T
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.4233+1848G>A
c.4233+1848G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532840
chr22:43532862 G
G
 A
A
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.4233+1826C>T
c.4233+1826C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532862
chr22:43532997 A
A
 G
G
 3 a0001c0001t0001g0068
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0068
a0001c0001t0001g0079
a0001c0001t0001g0080
 3 HG00423.hp2
NA18945.hp2
NA18972.hp2
HG00423.hp2
NA18945.hp2
NA18972.hp2
 intron_variant MODIFIER c.4233+1691T>C
c.4233+1691T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43532997
chr22:43533018 G
G
 A
A
 9 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
others(6): Show 
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
 9 HG01346.hp1
HG01515.hp2
HG01517.hp2
others(6): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG03453.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.4233+1670C>T
c.4233+1670C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533018
chr22:43533217 G
G
 A
A
 10 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
others(7): Show 
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0021c0036t0001g0138
 10 HG01346.hp1
HG01515.hp2
HG01517.hp2
others(7): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG03130.hp2
HG03453.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.4233+1471C>T
c.4233+1471C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533217
chr22:43533227 A
A
 G
G
 1 a0026c0028t0003g0003
a0026c0028t0003g0003
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.4233+1461T>C
c.4233+1461T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533227
chr22:43533274 G
G
 T
T
 1 a0006c0006t0001g0267
a0006c0006t0001g0267
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.4233+1414C>A
c.4233+1414C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533274
chr22:43533566 G
G
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.4233+1122C>A
c.4233+1122C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533566
chr22:43533644 A
A
 G
G
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.4233+1044T>C
c.4233+1044T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533644
chr22:43533837 C
C
 T
T
 1 a0002c0002t0004g0288
a0002c0002t0004g0288
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.4233+851G>A
c.4233+851G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533837
chr22:43533931 A
A
 G
G
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.4233+757T>C
c.4233+757T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533931
chr22:43533942 C
C
 T
T
 11 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(8): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0027c0030t0009g0290
a0029c0031t0002g0012
 11 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(8): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.4233+746G>A
c.4233+746G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43533942
chr22:43534009 T
T
 C
C
 3 a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
 3 HG01175.hp2
HG02293.hp2
HG02818.hp2
HG01175.hp2
HG02293.hp2
HG02818.hp2
 intron_variant MODIFIER c.4233+679A>G
c.4233+679A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43534009
chr22:43534501 CTG
CTG
 C
C
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.4233+185_4233+186d
others(4): Show 
c.4233+185_4233+186delCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43534501
chr22:43534644 C
C
 G
G
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.4233+44G>C
c.4233+44G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 30/31 chr22 43534644
chr22:43534945 C
C
 T
T
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.4049-73G>A
c.4049-73G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43534945
chr22:43535094 C
C
 T
T
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.4049-222G>A
c.4049-222G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535094
chr22:43535319 C
C
 G
G
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.4049-447G>C
c.4049-447G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535319
chr22:43535356 G
G
 A
A
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.4049-484C>T
c.4049-484C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535356
chr22:43535449 C
C
 T
T
 1 a0003c0003t0001g0215
a0003c0003t0001g0215
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.4049-577G>A
c.4049-577G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535449
chr22:43535495 C
C
 T
T
 13 a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
others(10): Show 
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 13 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(10): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.4049-623G>A
c.4049-623G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535495
chr22:43535532 G
G
 A
A
 1 a0004c0012t0001g0019
a0004c0012t0001g0019
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.4049-660C>T
c.4049-660C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535532
chr22:43535576 C
C
 T
T
 1 a0005c0020t0001g0169
a0005c0020t0001g0169
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.4049-704G>A
c.4049-704G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535576
chr22:43535583 C
C
 T
T
 1 a0005c0004t0001g0234
a0005c0004t0001g0234
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.4049-711G>A
c.4049-711G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535583
chr22:43535614 T
T
 C
C
 5 a0005c0004t0001g0093
a0005c0004t0001g0135
a0005c0004t0001g0136
others(2): Show 
a0005c0004t0001g0093
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0028c0041t0001g0189
 5 HG00323.hp1
HG01081.hp2
HG01175.hp1
others(2): Show 
HG00323.hp1
HG01081.hp2
HG01175.hp1
HG01943.hp1
HG02257.hp1
 intron_variant MODIFIER c.4049-742A>G
c.4049-742A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535614
chr22:43535784 C
C
 T
T
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.4049-912G>A
c.4049-912G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535784
chr22:43535828 T
T
 C
C
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.4049-956A>G
c.4049-956A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535828
chr22:43535912 G
G
 A
A
 1 a0006c0006t0001g0268
a0006c0006t0001g0268
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.4049-1040C>T
c.4049-1040C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43535912
chr22:43536482 G
G
 C
C
 1 a0003c0003t0001g0228
a0003c0003t0001g0228
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.4048+895C>G
c.4048+895C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43536482
chr22:43536541 A
A
 C
C
 201 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(198): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 201 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(198): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.4048+836T>G
c.4048+836T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43536541
chr22:43536581 C
C
 A
A
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.4048+796G>T
c.4048+796G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43536581
chr22:43536631 G
G
 T
T
 121 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(118): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 121 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(118): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.4048+746C>A
c.4048+746C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43536631
chr22:43536768 G
G
 A
A
 1 a0007c0007t0001g0158
a0007c0007t0001g0158
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.4048+609C>T
c.4048+609C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43536768
chr22:43537038 G
G
 A
A
 1 a0013c0018t0001g0092
a0013c0018t0001g0092
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.4048+339C>T
c.4048+339C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43537038
chr22:43537078 C
C
 T
T
 2 a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0228
a0003c0003t0001g0230
 2 HG00438.hp2
NA19057.hp2
HG00438.hp2
NA19057.hp2
 intron_variant MODIFIER c.4048+299G>A
c.4048+299G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43537078
chr22:43537372 C
C
 A
A
 2 a0006c0006t0001g0257
a0006c0006t0001g0270
a0006c0006t0001g0257
a0006c0006t0001g0270
 2 HG02922.hp1
HG02970.hp1
HG02922.hp1
HG02970.hp1
 splice_region_variant&intron_variant LOW c.4048+5G>T
c.4048+5G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 29/31 chr22 43537372
chr22:43537829 C
C
 CTG
CTG
 29 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(26): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 29 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(26): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3880-286_3880-285d
others(4): Show 
c.3880-286_3880-285dupCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43537829
chr22:43537926 C
C
 T
T
 32 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(29): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 32 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(29): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3880-381G>A
c.3880-381G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43537926
chr22:43537935 C
C
 T
T
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3880-390G>A
c.3880-390G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43537935
chr22:43537974 T
T
 G
G
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3880-429A>C
c.3880-429A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43537974
chr22:43537997 T
T
 C
C
 2 a0001c0035t0001g0235
a0003c0003t0001g0219
a0001c0035t0001g0235
a0003c0003t0001g0219
 2 NA18951.hp2
NA19077.hp2
NA18951.hp2
NA19077.hp2
 intron_variant MODIFIER c.3880-452A>G
c.3880-452A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43537997
chr22:43538052 G
G
 GT
GT
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3880-508dupA
c.3880-508dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538052
chr22:43538073 G
G
 A
A
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3880-528C>T
c.3880-528C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538073
chr22:43538088 T
T
 G
G
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3880-543A>C
c.3880-543A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538088
chr22:43538311 C
C
 T
T
 2 a0001c0001t0002g0009
a0017c0025t0002g0011
a0001c0001t0002g0009
a0017c0025t0002g0011
 2 HG02572.hp2
HG02965.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.3880-766G>A
c.3880-766G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538311
chr22:43538397 T
T
 G
G
 286 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(283): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 286 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(283): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3880-852A>C
c.3880-852A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538397
chr22:43538655 G
G
 C
C
 1 a0005c0004t0001g0131
a0005c0004t0001g0131
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.3880-1110C>G
c.3880-1110C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538655
chr22:43538683 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3880-1138C>T
c.3880-1138C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538683
chr22:43538845 G
G
 GAACACCA
others(15): Show 
GAACACCACTATTATCTTATTAT
 1 a0001c0035t0001g0235
a0001c0035t0001g0235
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.3879+1281_3879+128
others(26): Show 
c.3879+1281_3879+1282insATAATAAGATAATAGTGGTGTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538845
chr22:43538850 A
A
 C
C
 1 a0001c0035t0001g0235
a0001c0035t0001g0235
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.3879+1277T>G
c.3879+1277T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538850
chr22:43538852 A
A
 T
T
 1 a0001c0035t0001g0235
a0001c0035t0001g0235
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.3879+1275T>A
c.3879+1275T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538852
chr22:43538885 G
G
 T
T
 1 a0007c0007t0001g0157
a0007c0007t0001g0157
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.3879+1242C>A
c.3879+1242C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538885
chr22:43538893 T
T
 G
G
 15 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(12): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
 15 HG01884.hp1
HG01934.hp1
HG02145.hp1
others(12): Show 
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03540.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.3879+1234A>C
c.3879+1234A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43538893
chr22:43539084 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3879+1043G>A
c.3879+1043G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539084
chr22:43539109 T
T
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.3879+1018A>G
c.3879+1018A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539109
chr22:43539155 AAGCCAG
AAGCCAG
 A
A
 41 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0123
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0017c0025t0002g0011
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 41 HG00323.hp2
HG01175.hp2
HG01243.hp2
others(38): Show 
HG00323.hp2
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18954.hp1
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.3879+966_3879+971d
others(8): Show 
c.3879+966_3879+971delCTGGCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539155
chr22:43539555 C
C
 T
T
 1 a0003c0003t0001g0213
a0003c0003t0001g0213
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.3879+572G>A
c.3879+572G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539555
chr22:43539707 G
G
 A
A
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.3879+420C>T
c.3879+420C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539707
chr22:43539721 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3879+406C>T
c.3879+406C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539721
chr22:43539786 A
A
 G
G
 1 a0005c0004t0001g0136
a0005c0004t0001g0136
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.3879+341T>C
c.3879+341T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539786
chr22:43539853 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3879+274C>T
c.3879+274C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539853
chr22:43539888 G
G
 A
A
 1 a0004c0005t0001g0165
a0004c0005t0001g0165
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.3879+239C>T
c.3879+239C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539888
chr22:43539917 C
C
 T
T
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3879+210G>A
c.3879+210G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 28/31 chr22 43539917
chr22:43540382 C
C
 T
T
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.3649-25G>A
c.3649-25G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43540382
chr22:43540503 C
C
 T
T
 28 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0258
others(25): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0017c0025t0002g0011
a0029c0031t0002g0012
a0032c0042t0001g0275
 28 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(25): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03453.hp1
HG03486.hp2
HG06807.hp1
NA18954.hp1
NA19077.hp1
NA20805.hp2
 intron_variant MODIFIER c.3649-146G>A
c.3649-146G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43540503
chr22:43540861 C
C
 T
T
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3649-504G>A
c.3649-504G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43540861
chr22:43540868 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3649-511C>T
c.3649-511C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43540868
chr22:43540977 AAATG
AAATG
 A
A
 122 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(119): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0208
a0001c0027t0001g0075
a0002c0002t0001g0123
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 122 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(119): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19081.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.3649-624_3649-621d
others(6): Show 
c.3649-624_3649-621delCATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43540977
chr22:43541184 G
G
 A
A
 15 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(12): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
 15 HG01884.hp1
HG01934.hp1
HG02145.hp1
others(12): Show 
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03540.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.3649-827C>T
c.3649-827C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541184
chr22:43541201 T
T
 A
A
 30 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(27): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3649-844A>T
c.3649-844A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541201
chr22:43541219 G
G
 A
A
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.3649-862C>T
c.3649-862C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541219
chr22:43541331 G
G
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3649-974C>A
c.3649-974C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541331
chr22:43541340 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-983C>T
c.3649-983C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541340
chr22:43541411 C
C
 T
T
 1 a0002c0002t0001g0140
a0002c0002t0001g0140
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.3649-1054G>A
c.3649-1054G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541411
chr22:43541467 C
C
 A
A
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3649-1110G>T
c.3649-1110G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541467
chr22:43541521 A
A
 G
G
 213 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(210): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0208
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 213 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(210): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.3649-1164T>C
c.3649-1164T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541521
chr22:43541528 G
G
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3649-1171C>T
c.3649-1171C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541528
chr22:43541558 T
T
 C
C
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3649-1201A>G
c.3649-1201A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541558
chr22:43541589 C
C
 G
G
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3649-1232G>C
c.3649-1232G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541589
chr22:43541609 G
G
 C
C
 30 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(27): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3649-1252C>G
c.3649-1252C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541609
chr22:43541636 A
A
 G
G
 43 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(40): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0123
a0004c0012t0001g0134
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0017c0025t0002g0011
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 43 HG00323.hp2
HG01175.hp2
HG01243.hp2
others(40): Show 
HG00323.hp2
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18954.hp1
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.3649-1279T>C
c.3649-1279T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541636
chr22:43541662 A
A
 G
G
 130 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(127): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0208
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 130 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(127): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19081.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.3649-1305T>C
c.3649-1305T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541662
chr22:43541784 C
C
 T
T
 3 a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
 3 HG02109.hp1
HG02572.hp1
HG03139.hp2
HG02109.hp1
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.3649-1427G>A
c.3649-1427G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541784
chr22:43541880 G
G
 A
A
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3649-1523C>T
c.3649-1523C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541880
chr22:43541945 A
A
 T
T
 3 a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
 3 NA18945.hp1
NA18962.hp1
NA19000.hp1
NA18945.hp1
NA18962.hp1
NA19000.hp1
 intron_variant MODIFIER c.3649-1588T>A
c.3649-1588T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541945
chr22:43541987 G
G
 A
A
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.3649-1630C>T
c.3649-1630C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43541987
chr22:43542010 G
G
 C
C
 79 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(76): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0123
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 79 HG00323.hp1
HG00323.hp2
HG01070.hp1
others(76): Show 
HG00323.hp1
HG00323.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18983.hp2
NA18984.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.3649-1653C>G
c.3649-1653C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542010
chr22:43542059 G
G
 A
A
 32 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(29): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 32 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(29): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3649-1702C>T
c.3649-1702C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542059
chr22:43542066 G
G
 A
A
 34 a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
others(31): Show 
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 34 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA18984.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3649-1709C>T
c.3649-1709C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542066
chr22:43542108 G
G
 A
A
 1 a0006c0006t0001g0280
a0006c0006t0001g0280
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.3649-1751C>T
c.3649-1751C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542108
chr22:43542118 C
C
 G
G
 3 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
 3 HG02615.hp2
HG02809.hp2
HG03139.hp1
HG02615.hp2
HG02809.hp2
HG03139.hp1
 intron_variant MODIFIER c.3649-1761G>C
c.3649-1761G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542118
chr22:43542174 A
A
 G
G
 123 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(120): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0208
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0123
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 123 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(120): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19081.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.3649-1817T>C
c.3649-1817T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542174
chr22:43542759 C
C
 A
A
 1 a0003c0003t0001g0209
a0003c0003t0001g0209
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.3649-2402G>T
c.3649-2402G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542759
chr22:43542765 G
G
 A
A
 4 a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
others(1): Show 
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0038t0001g0260
 4 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(1): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02970.hp2
 intron_variant MODIFIER c.3649-2408C>T
c.3649-2408C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542765
chr22:43542861 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3649-2504G>A
c.3649-2504G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542861
chr22:43542892 G
G
 A
A
 1 a0001c0013t0001g0233
a0001c0013t0001g0233
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.3649-2535C>T
c.3649-2535C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542892
chr22:43542921 G
G
 A
A
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.3649-2564C>T
c.3649-2564C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542921
chr22:43542935 G
G
 A
A
 4 a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
others(1): Show 
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 4 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(1): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.3649-2578C>T
c.3649-2578C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542935
chr22:43542979 G
G
 A
A
 4 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(1): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
 4 NA18950.hp2
NA18979.hp1
NA19066.hp2
others(1): Show 
NA18950.hp2
NA18979.hp1
NA19066.hp2
NA19083.hp2
 intron_variant MODIFIER c.3649-2622C>T
c.3649-2622C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542979
chr22:43542992 C
C
 T
T
 1 a0001c0013t0001g0188
a0001c0013t0001g0188
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.3649-2635G>A
c.3649-2635G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43542992
chr22:43543002 C
C
 T
T
 18 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(15): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0122
a0002c0002t0001g0241
a0002c0019t0001g0124
a0002c0019t0001g0125
 18 HG01175.hp2
HG01934.hp1
HG02145.hp1
others(15): Show 
HG01175.hp2
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02818.hp2
HG03195.hp1
HG03209.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.3649-2645G>A
c.3649-2645G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543002
chr22:43543003 C
C
 G
G
 82 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(79): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0123
a0004c0012t0001g0094
a0004c0012t0001g0095
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 82 HG00323.hp1
HG00323.hp2
HG01070.hp1
others(79): Show 
HG00323.hp1
HG00323.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18954.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18983.hp2
NA18984.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.3649-2646G>C
c.3649-2646G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543003
chr22:43543122 G
G
 C
C
 3 a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
 3 NA18945.hp1
NA18962.hp1
NA19000.hp1
NA18945.hp1
NA18962.hp1
NA19000.hp1
 intron_variant MODIFIER c.3649-2765C>G
c.3649-2765C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543122
chr22:43543259 G
G
 C
C
 29 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(26): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 29 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(26): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3649-2902C>G
c.3649-2902C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543259
chr22:43543313 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3649-2956C>T
c.3649-2956C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543313
chr22:43543321 C
C
 G
G
 35 a0004c0012t0001g0094
a0004c0012t0001g0095
a0005c0004t0001g0020
others(32): Show 
a0004c0012t0001g0094
a0004c0012t0001g0095
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0026c0028t0003g0003
a0028c0041t0001g0189
 35 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(32): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01175.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02738.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp2
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp2
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.3649-2964G>C
c.3649-2964G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543321
chr22:43543513 C
C
 T
T
 2 a0003c0003t0001g0222
a0003c0003t0001g0225
a0003c0003t0001g0222
a0003c0003t0001g0225
 2 NA19004.hp1
NA19084.hp2
NA19004.hp1
NA19084.hp2
 intron_variant MODIFIER c.3649-3156G>A
c.3649-3156G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543513
chr22:43543537 T
T
 C
C
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.3649-3180A>G
c.3649-3180A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543537
chr22:43543638 G
G
 A
A
 7 a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
others(4): Show 
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
 7 HG02083.hp2
NA18942.hp1
NA18943.hp1
others(4): Show 
HG02083.hp2
NA18942.hp1
NA18943.hp1
NA18954.hp2
NA19010.hp2
NA19011.hp1
NA19079.hp1
 intron_variant MODIFIER c.3649-3281C>T
c.3649-3281C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543638
chr22:43543674 G
G
 T
T
 2 a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0007t0002g0004
a0007c0007t0002g0005
 2 HG03516.hp1
NA18906.hp1
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.3649-3317C>A
c.3649-3317C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543674
chr22:43543751 G
G
 A
A
 6 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(3): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
 6 NA18950.hp2
NA18979.hp1
NA19060.hp2
others(3): Show 
NA18950.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.3649-3394C>T
c.3649-3394C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543751
chr22:43543766 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3649-3409G>A
c.3649-3409G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543766
chr22:43543853 C
C
 T
T
 1 a0004c0005t0001g0162
a0004c0005t0001g0162
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.3649-3496G>A
c.3649-3496G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543853
chr22:43543862 C
C
 T
T
 2 a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0040
a0001c0001t0001g0042
 2 NA18950.hp1
NA19057.hp1
NA18950.hp1
NA19057.hp1
 intron_variant MODIFIER c.3649-3505G>A
c.3649-3505G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543862
chr22:43543975 G
G
 A
A
 2 a0013c0018t0001g0090
a0013c0018t0001g0092
a0013c0018t0001g0090
a0013c0018t0001g0092
 2 HG02630.hp1
NA20129.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.3649-3618C>T
c.3649-3618C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43543975
chr22:43544072 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-3715G>A
c.3649-3715G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544072
chr22:43544096 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3649-3739G>T
c.3649-3739G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544096
chr22:43544147 T
T
 A
A
 75 a0001c0001t0001g0087
a0001c0013t0001g0208
a0004c0005t0001g0021
others(72): Show 
a0001c0001t0001g0087
a0001c0013t0001g0208
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0026c0028t0003g0003
a0028c0041t0001g0189
 75 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(72): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02738.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp1
HG03516.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp1
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18972.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.3649-3790A>T
c.3649-3790A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544147
chr22:43544293 A
A
 T
T
 8 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(5): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0056
a0001c0001t0001g0071
a0001c0001t0001g0190
a0001c0013t0001g0031
 8 HG01258.hp2
HG02004.hp2
HG02040.hp1
others(5): Show 
HG01258.hp2
HG02004.hp2
HG02040.hp1
NA18947.hp1
NA18962.hp2
NA18965.hp1
NA18974.hp1
NA19087.hp1
 intron_variant MODIFIER c.3649-3936T>A
c.3649-3936T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544293
chr22:43544417 T
T
 C
C
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.3649-4060A>G
c.3649-4060A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544417
chr22:43544485 T
T
 G
G
 250 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(247): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0231
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.3649-4128A>C
c.3649-4128A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544485
chr22:43544505 T
T
 C
C
 1 a0003c0003t0001g0218
a0003c0003t0001g0218
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.3649-4148A>G
c.3649-4148A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544505
chr22:43544505 T
T
 G
G
 17 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0242
others(14): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 17 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(14): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
NA20129.hp1
 intron_variant MODIFIER c.3649-4148A>C
c.3649-4148A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544505
chr22:43544506 C
C
 T
T
 17 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0242
others(14): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 17 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(14): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
NA20129.hp1
 intron_variant MODIFIER c.3649-4149G>A
c.3649-4149G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544506
chr22:43544671 G
G
 A
A
 1 a0002c0002t0001g0123
a0002c0002t0001g0123
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.3649-4314C>T
c.3649-4314C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544671
chr22:43544791 T
T
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-4434A>C
c.3649-4434A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544791
chr22:43544852 G
G
 C
C
 1 a0003c0003t0001g0215
a0003c0003t0001g0215
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.3649-4495C>G
c.3649-4495C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544852
chr22:43544856 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-4499C>T
c.3649-4499C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544856
chr22:43544980 T
T
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-4623A>C
c.3649-4623A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544980
chr22:43544987 GA
GA
 G
G
 226 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(223): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 226 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(223): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.3649-4631delT
c.3649-4631delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43544987
chr22:43545004 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-4647C>T
c.3649-4647C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545004
chr22:43545019 C
C
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-4662G>T
c.3649-4662G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545019
chr22:43545020 G
G
 A
A
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.3649-4663C>T
c.3649-4663C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545020
chr22:43545034 A
A
 G
G
 121 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(118): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0208
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0123
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0019c0043t0001g0224
a0020c0048t0001g0177
a0022c0039t0001g0091
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 121 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(118): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.3649-4677T>C
c.3649-4677T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545034
chr22:43545101 C
C
 T
T
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.3649-4744G>A
c.3649-4744G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545101
chr22:43545348 A
A
 T
T
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.3649-4991T>A
c.3649-4991T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545348
chr22:43545358 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-5001A>G
c.3649-5001A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545358
chr22:43545472 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-5115G>A
c.3649-5115G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545472
chr22:43545542 C
C
 T
T
 2 a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0185
a0003c0003t0001g0186
 2 NA19060.hp2
NA19080.hp2
NA19060.hp2
NA19080.hp2
 intron_variant MODIFIER c.3649-5185G>A
c.3649-5185G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545542
chr22:43545571 T
T
 C
C
 44 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(41): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0123
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 44 HG00323.hp2
HG01175.hp2
HG01243.hp2
others(41): Show 
HG00323.hp2
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18954.hp1
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.3649-5214A>G
c.3649-5214A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545571
chr22:43545572 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-5215C>T
c.3649-5215C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545572
chr22:43545794 G
G
 A
A
 29 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(26): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 29 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(26): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3649-5437C>T
c.3649-5437C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545794
chr22:43545951 A
A
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-5594T>A
c.3649-5594T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545951
chr22:43545970 TA
TA
 T
T
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3649-5614delT
c.3649-5614delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43545970
chr22:43546181 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-5824G>A
c.3649-5824G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546181
chr22:43546358 C
C
 T
T
 1 a0008c0008t0001g0036
a0008c0008t0001g0036
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.3649-6001G>A
c.3649-6001G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546358
chr22:43546433 A
A
 G
G
 11 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(8): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 11 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(8): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA20129.hp2
 intron_variant MODIFIER c.3649-6076T>C
c.3649-6076T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546433
chr22:43546613 G
G
 A
A
 1 a0003c0003t0001g0023
a0003c0003t0001g0023
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.3649-6256C>T
c.3649-6256C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546613
chr22:43546644 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-6287C>T
c.3649-6287C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546644
chr22:43546668 C
C
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3649-6311G>A
c.3649-6311G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546668
chr22:43546696 C
C
 G
G
 1 a0006c0006t0001g0271
a0006c0006t0001g0271
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.3649-6339G>C
c.3649-6339G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546696
chr22:43546744 G
G
 A
A
 1 a0003c0003t0001g0217
a0003c0003t0001g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.3649-6387C>T
c.3649-6387C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546744
chr22:43546805 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-6448C>T
c.3649-6448C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546805
chr22:43546872 CA
CA
 C
C
 37 a0001c0001t0001g0028
a0001c0001t0001g0076
a0001c0001t0001g0077
others(34): Show 
a0001c0001t0001g0028
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0014c0017t0001g0282
a0014c0017t0001g0283
a0023c0034t0001g0082
a0031c0022t0001g0237
a0032c0042t0001g0275
 37 HG00323.hp2
HG01175.hp2
HG01243.hp2
others(34): Show 
HG00323.hp2
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG04228.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18954.hp1
NA18965.hp1
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.3649-6516delT
c.3649-6516delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546872
chr22:43546916 A
A
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-6559T>G
c.3649-6559T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546916
chr22:43546974 C
C
 A
A
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3649-6617G>T
c.3649-6617G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43546974
chr22:43547092 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.3649-6735T>C
c.3649-6735T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547092
chr22:43547095 G
G
 A
A
 1 a0001c0046t0001g0067
a0001c0046t0001g0067
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.3649-6738C>T
c.3649-6738C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547095
chr22:43547175 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-6818C>T
c.3649-6818C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547175
chr22:43547183 G
G
 C
C
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3649-6826C>G
c.3649-6826C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547183
chr22:43547197 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-6840T>C
c.3649-6840T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547197
chr22:43547220 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.3649-6863C>T
c.3649-6863C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547220
chr22:43547309 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3649-6952T>C
c.3649-6952T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547309
chr22:43547723 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+7146G>A
c.3648+7146G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547723
chr22:43547751 GA
GA
 G
G
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0240
a0007c0014t0002g0015
a0007c0014t0005g0014
a0023c0034t0001g0082
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03195.hp2
HG03540.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.3648+7117delT
c.3648+7117delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547751
chr22:43547858 G
G
 A
A
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.3648+7011C>T
c.3648+7011C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547858
chr22:43547927 T
T
 C
C
 1 a0018c0044t0001g0221
a0018c0044t0001g0221
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.3648+6942A>G
c.3648+6942A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547927
chr22:43547951 C
C
 G
G
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
 45 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03139.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3648+6918G>C
c.3648+6918G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547951
chr22:43547965 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+6904C>T
c.3648+6904C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43547965
chr22:43548013 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+6856C>T
c.3648+6856C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548013
chr22:43548047 G
G
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.3648+6822C>T
c.3648+6822C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548047
chr22:43548125 A
A
 G
G
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+6744T>C
c.3648+6744T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548125
chr22:43548128 G
G
 C
C
 11 a0001c0001t0001g0087
a0007c0007t0001g0154
a0007c0007t0001g0155
others(8): Show 
a0001c0001t0001g0087
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0014t0002g0015
a0007c0014t0005g0014
a0022c0039t0001g0091
 11 HG01243.hp1
HG01433.hp1
HG01496.hp1
others(8): Show 
HG01243.hp1
HG01433.hp1
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.3648+6741C>G
c.3648+6741C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548128
chr22:43548144 G
G
 A
A
 2 a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0069
a0001c0001t0001g0070
 2 NA18979.hp2
NA19083.hp1
NA18979.hp2
NA19083.hp1
 intron_variant MODIFIER c.3648+6725C>T
c.3648+6725C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548144
chr22:43548198 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+6671A>G
c.3648+6671A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548198
chr22:43548267 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+6602C>T
c.3648+6602C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548267
chr22:43548383 T
T
 C
C
 2 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0154
a0007c0007t0001g0155
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 intron_variant MODIFIER c.3648+6486A>G
c.3648+6486A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548383
chr22:43548509 C
C
 T
T
 167 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(164): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0018c0044t0001g0221
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 167 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(164): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3648+6360G>A
c.3648+6360G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548509
chr22:43548510 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+6359C>T
c.3648+6359C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548510
chr22:43548539 C
C
 CA
CA
 24 a0001c0001t0001g0255
a0001c0001t0001g0258
a0001c0001t0002g0007
others(21): Show 
a0001c0001t0001g0255
a0001c0001t0001g0258
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
a0004c0005t0001g0252
a0004c0009t0001g0168
a0004c0009t0001g0171
a0004c0012t0001g0095
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0109
a0005c0004t0001g0135
a0005c0020t0001g0161
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0278
a0009c0010t0001g0150
a0011c0015t0001g0102
a0019c0043t0001g0224
a0028c0041t0001g0189
 24 HG00323.hp1
HG00438.hp1
HG01175.hp1
others(21): Show 
HG00323.hp1
HG00438.hp1
HG01175.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02257.hp1
HG02615.hp2
HG02809.hp2
HG03139.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
NA18944.hp2
NA18946.hp1
NA18967.hp1
NA18972.hp1
NA18999.hp2
NA19000.hp1
NA19070.hp1
NA19091.hp1
 intron_variant MODIFIER c.3648+6329dupT
c.3648+6329dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 C
C
 CAAAAAAA
others(10): Show 
CAAAAAAAAAAAAAAAAA
 1 a0001c0027t0001g0075
a0001c0027t0001g0075
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.3648+6313_3648+632
others(21): Show 
c.3648+6313_3648+6329dupTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.3648+6312_3648+632
others(22): Show 
c.3648+6312_3648+6329dupTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.3648+6311_3648+632
others(23): Show 
c.3648+6311_3648+6329dupTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 C
C
 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.3648+6310_3648+632
others(24): Show 
c.3648+6310_3648+6329dupTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 C
C
 CAAAAAAA
others(14): Show 
CAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0003g0002
a0031c0022t0001g0237
a0001c0001t0003g0002
a0031c0022t0001g0237
 2 HG02293.hp2
NA20129.hp2
HG02293.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+6309_3648+632
others(25): Show 
c.3648+6309_3648+6329dupTTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 CA
CA
 C
C
 13 a0001c0001t0001g0239
a0002c0002t0001g0122
a0003c0003t0001g0023
others(10): Show 
a0001c0001t0001g0239
a0002c0002t0001g0122
a0003c0003t0001g0023
a0003c0003t0001g0183
a0003c0003t0001g0185
a0003c0003t0001g0207
a0003c0003t0001g0218
a0003c0003t0001g0227
a0003c0003t0001g0229
a0004c0005t0001g0175
a0005c0004t0001g0107
a0007c0014t0002g0016
a0007c0014t0002g0017
 13 HG02109.hp1
HG02109.hp2
HG02155.hp2
others(10): Show 
HG02109.hp1
HG02109.hp2
HG02155.hp2
HG02572.hp1
HG03491.hp1
NA18906.hp2
NA18944.hp1
NA18961.hp1
NA19009.hp2
NA19060.hp2
NA19066.hp2
NA19083.hp2
NA20905.hp1
 intron_variant MODIFIER c.3648+6329delT
c.3648+6329delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 CAA
CAA
 C
C
 53 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(50): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0059
a0001c0001t0001g0071
a0001c0001t0001g0192
a0001c0001t0001g0199
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0023t0001g0254
a0001c0035t0001g0235
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0141
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0184
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0021c0036t0001g0138
a0030c0032t0001g0126
 53 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(50): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp2
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02004.hp2
HG02074.hp2
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG03130.hp2
HG03139.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA19000.hp2
NA19004.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19077.hp2
NA19080.hp2
NA19084.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3648+6328_3648+632
others(6): Show 
c.3648+6328_3648+6329delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 CAAA
CAAA
 C
C
 107 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(104): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0007g0238
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0004c0012t0001g0019
a0005c0004t0001g0130
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0018c0044t0001g0221
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
 107 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(104): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18906.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18967.hp2
NA18979.hp2
NA18999.hp1
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3648+6327_3648+632
others(7): Show 
c.3648+6327_3648+6329delTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.3648+6319_3648+632
others(15): Show 
c.3648+6319_3648+6329delTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548539 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 C
C
 1 a0003c0003t0001g0223
a0003c0003t0001g0223
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.3648+6315_3648+632
others(19): Show 
c.3648+6315_3648+6329delTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548539
chr22:43548571 G
G
 A
A
 1 a0001c0027t0001g0075
a0001c0027t0001g0075
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.3648+6298C>T
c.3648+6298C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548571
chr22:43548582 T
T
 C
C
 1 a0005c0004t0001g0132
a0005c0004t0001g0132
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.3648+6287A>G
c.3648+6287A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548582
chr22:43548597 G
G
 T
T
 3 a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
 3 HG01175.hp2
HG02293.hp2
HG02818.hp2
HG01175.hp2
HG02293.hp2
HG02818.hp2
 intron_variant MODIFIER c.3648+6272C>A
c.3648+6272C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548597
chr22:43548643 C
C
 A
A
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3648+6226G>T
c.3648+6226G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548643
chr22:43548703 T
T
 C
C
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3648+6166A>G
c.3648+6166A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548703
chr22:43548767 G
G
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3648+6102C>T
c.3648+6102C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548767
chr22:43548822 G
G
 A
A
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+6047C>T
c.3648+6047C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548822
chr22:43548862 T
T
 C
C
 6 a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
others(3): Show 
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
 6 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(3): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
NA18960.hp2
NA18999.hp2
NA19064.hp2
 intron_variant MODIFIER c.3648+6007A>G
c.3648+6007A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43548862
chr22:43549497 T
T
 C
C
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.3648+5372A>G
c.3648+5372A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43549497
chr22:43549524 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+5345T>C
c.3648+5345T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43549524
chr22:43549679 A
A
 T
T
 2 a0013c0018t0001g0090
a0013c0018t0001g0092
a0013c0018t0001g0090
a0013c0018t0001g0092
 2 HG02630.hp1
NA20129.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.3648+5190T>A
c.3648+5190T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43549679
chr22:43549755 T
T
 C
C
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.3648+5114A>G
c.3648+5114A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43549755
chr22:43549867 C
C
 T
T
 2 a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0094
a0004c0012t0001g0095
 2 HG03834.hp2
HG03942.hp1
HG03834.hp2
HG03942.hp1
 intron_variant MODIFIER c.3648+5002G>A
c.3648+5002G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43549867
chr22:43549966 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3648+4903G>A
c.3648+4903G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43549966
chr22:43550163 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+4706C>T
c.3648+4706C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550163
chr22:43550210 C
C
 T
T
 1 a0002c0002t0001g0117
a0002c0002t0001g0117
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.3648+4659G>A
c.3648+4659G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550210
chr22:43550267 A
A
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3648+4602T>C
c.3648+4602T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550267
chr22:43550596 C
C
 T
T
 47 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(44): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0024c0033t0001g0181
a0027c0030t0009g0290
 47 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(44): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03041.hp2
HG03139.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3648+4273G>A
c.3648+4273G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550596
chr22:43550671 C
C
 CA
CA
 17 a0001c0001t0001g0068
a0001c0001t0001g0083
a0001c0001t0001g0153
others(14): Show 
a0001c0001t0001g0068
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0009
a0001c0001t0002g0010
a0002c0002t0001g0123
a0002c0002t0001g0261
a0003c0003t0001g0183
a0003c0003t0001g0222
a0003c0003t0001g0228
a0004c0005t0001g0252
a0007c0007t0002g0005
a0017c0025t0002g0011
a0021c0036t0001g0138
a0029c0031t0002g0012
 17 HG00438.hp2
HG01175.hp2
HG02055.hp1
others(14): Show 
HG00438.hp2
HG01175.hp2
HG02055.hp1
HG02559.hp2
HG02572.hp2
HG02717.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03130.hp2
HG03516.hp1
HG06807.hp1
NA18522.hp1
NA18972.hp2
NA19000.hp1
NA19004.hp1
NA19083.hp2
 intron_variant MODIFIER c.3648+4197dupT
c.3648+4197dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550671
chr22:43550671 CA
CA
 C
C
 7 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0073
others(4): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0073
a0001c0001t0001g0074
a0002c0002t0001g0242
a0012c0016t0001g0281
a0023c0034t0001g0082
 7 HG00639.hp2
HG02897.hp1
HG03195.hp2
others(4): Show 
HG00639.hp2
HG02897.hp1
HG03195.hp2
NA18939.hp2
NA18960.hp1
NA18965.hp1
NA18984.hp1
 intron_variant MODIFIER c.3648+4197delT
c.3648+4197delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550671
chr22:43550760 G
G
 A
A
 27 a0001c0001t0001g0083
a0001c0001t0001g0258
a0001c0001t0002g0006
others(24): Show 
a0001c0001t0001g0083
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0017c0025t0002g0011
a0029c0031t0002g0012
a0032c0042t0001g0275
 27 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(24): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03453.hp1
HG03486.hp2
HG06807.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3648+4109C>T
c.3648+4109C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550760
chr22:43550772 T
T
 C
C
 3 a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
 3 HG00140.hp2
HG00639.hp2
HG02683.hp1
HG00140.hp2
HG00639.hp2
HG02683.hp1
 intron_variant MODIFIER c.3648+4097A>G
c.3648+4097A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550772
chr22:43550843 T
T
 C
C
 212 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(209): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 212 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3648+4026A>G
c.3648+4026A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550843
chr22:43550868 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+4001C>T
c.3648+4001C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550868
chr22:43550940 C
C
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3648+3929G>T
c.3648+3929G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550940
chr22:43550978 T
T
 A
A
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.3648+3891A>T
c.3648+3891A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550978
chr22:43550988 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+3881C>T
c.3648+3881C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43550988
chr22:43551088 G
G
 C
C
 2 a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0007t0002g0004
a0007c0007t0002g0005
 2 HG03516.hp1
NA18906.hp1
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.3648+3781C>G
c.3648+3781C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551088
chr22:43551194 C
C
 T
T
 226 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(223): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 226 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(223): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3648+3675G>A
c.3648+3675G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551194
chr22:43551223 G
G
 A
A
 167 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(164): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0018c0044t0001g0221
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 167 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(164): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3648+3646C>T
c.3648+3646C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551223
chr22:43551409 G
G
 A
A
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3648+3460C>T
c.3648+3460C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551409
chr22:43551425 G
G
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+3444C>G
c.3648+3444C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551425
chr22:43551763 G
G
 C
C
 1 a0003c0003t0001g0216
a0003c0003t0001g0216
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.3648+3106C>G
c.3648+3106C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551763
chr22:43551828 C
C
 CT
CT
 7 a0001c0001t0001g0068
a0002c0002t0001g0120
a0006c0006t0001g0276
others(4): Show 
a0001c0001t0001g0068
a0002c0002t0001g0120
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0019c0043t0001g0224
a0029c0031t0002g0012
 7 HG01515.hp2
HG01517.hp2
HG02055.hp1
others(4): Show 
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02300.hp1
HG03579.hp2
NA18972.hp1
NA18972.hp2
 intron_variant MODIFIER c.3648+3040dupA
c.3648+3040dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551828
chr22:43551908 A
A
 C
C
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3648+2961T>G
c.3648+2961T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551908
chr22:43551921 G
G
 A
A
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.3648+2948C>T
c.3648+2948C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43551921
chr22:43552022 G
G
 A
A
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
 10 HG01243.hp1
HG01496.hp1
HG02723.hp1
others(7): Show 
HG01243.hp1
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.3648+2847C>T
c.3648+2847C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552022
chr22:43552164 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+2705G>A
c.3648+2705G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552164
chr22:43552249 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+2620G>A
c.3648+2620G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552249
chr22:43552374 C
C
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3648+2495G>T
c.3648+2495G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552374
chr22:43552561 G
G
 T
T
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.3648+2308C>A
c.3648+2308C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552561
chr22:43552602 G
G
 C
C
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3648+2267C>G
c.3648+2267C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552602
chr22:43552608 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.3648+2261G>A
c.3648+2261G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552608
chr22:43552758 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+2111A>G
c.3648+2111A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552758
chr22:43552779 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+2090C>T
c.3648+2090C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552779
chr22:43552926 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+1943A>G
c.3648+1943A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43552926
chr22:43553119 G
G
 C
C
 1 a0015c0024t0001g0128
a0015c0024t0001g0128
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.3648+1750C>G
c.3648+1750C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553119
chr22:43553129 G
G
 A
A
 1 a0004c0005t0001g0162
a0004c0005t0001g0162
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.3648+1740C>T
c.3648+1740C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553129
chr22:43553377 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+1492T>C
c.3648+1492T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553377
chr22:43553383 G
G
 C
C
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3648+1486C>G
c.3648+1486C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553383
chr22:43553455 G
G
 A
A
 2 a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0211
a0003c0003t0001g0212
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.3648+1414C>T
c.3648+1414C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553455
chr22:43553476 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3648+1393G>A
c.3648+1393G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553476
chr22:43553497 C
C
 T
T
 7 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0009
others(4): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0009
a0001c0001t0002g0010
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 7 HG02055.hp1
HG02572.hp2
HG02717.hp2
others(4): Show 
HG02055.hp1
HG02572.hp2
HG02717.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG06807.hp1
 intron_variant MODIFIER c.3648+1372G>A
c.3648+1372G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553497
chr22:43553498 G
G
 A
A
 2 a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0007t0002g0004
a0007c0007t0002g0005
 2 HG03516.hp1
NA18906.hp1
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.3648+1371C>T
c.3648+1371C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553498
chr22:43553634 T
T
 C
C
 2 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0048
a0001c0001t0001g0049
 2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.3648+1235A>G
c.3648+1235A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553634
chr22:43553672 G
G
 A
A
 29 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(26): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 29 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(26): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3648+1197C>T
c.3648+1197C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553672
chr22:43553760 T
T
 G
G
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.3648+1109A>C
c.3648+1109A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553760
chr22:43553951 G
G
 A
A
 2 a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0094
a0004c0012t0001g0095
 2 HG03834.hp2
HG03942.hp1
HG03834.hp2
HG03942.hp1
 intron_variant MODIFIER c.3648+918C>T
c.3648+918C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553951
chr22:43553978 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3648+891G>A
c.3648+891G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43553978
chr22:43554403 T
T
 C
C
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3648+466A>G
c.3648+466A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554403
chr22:43554405 G
G
 C
C
 1 a0006c0006t0001g0270
a0006c0006t0001g0270
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.3648+464C>G
c.3648+464C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554405
chr22:43554460 T
T
 C
C
 1 a0004c0012t0001g0019
a0004c0012t0001g0019
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.3648+409A>G
c.3648+409A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554460
chr22:43554462 C
C
 T
T
 2 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0267
a0006c0006t0001g0268
 2 HG01346.hp1
NA20805.hp2
HG01346.hp1
NA20805.hp2
 intron_variant MODIFIER c.3648+407G>A
c.3648+407G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554462
chr22:43554526 G
G
 A
A
 94 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(91): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0002g0009
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0004c0012t0001g0019
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0029c0031t0002g0012
a0030c0032t0001g0126
 94 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(91): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3648+343C>T
c.3648+343C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554526
chr22:43554569 C
C
 T
T
 15 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(12): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
 15 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(12): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.3648+300G>A
c.3648+300G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554569
chr22:43554581 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3648+288G>A
c.3648+288G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554581
chr22:43554606 G
G
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3648+263C>A
c.3648+263C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554606
chr22:43554662 T
T
 C
C
 3 a0002c0021t0001g0250
a0014c0017t0001g0282
a0014c0017t0001g0283
a0002c0021t0001g0250
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG02698.hp1
HG03491.hp2
HG03492.hp1
HG02698.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3648+207A>G
c.3648+207A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554662
chr22:43554664 G
G
 A
A
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3648+205C>T
c.3648+205C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554664
chr22:43554735 T
T
 C
C
 1 a0001c0035t0001g0235
a0001c0035t0001g0235
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.3648+134A>G
c.3648+134A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554735
chr22:43554795 G
G
 C
C
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3648+74C>G
c.3648+74C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 27/31 chr22 43554795
chr22:43555128 T
T
 A
A
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
 10 HG01243.hp1
HG01496.hp1
HG02723.hp1
others(7): Show 
HG01243.hp1
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.3421-32A>T
c.3421-32A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555128
chr22:43555264 C
C
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-168G>T
c.3421-168G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555264
chr22:43555354 C
C
 T
T
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.3421-258G>A
c.3421-258G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555354
chr22:43555410 T
T
 C
C
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-314A>G
c.3421-314A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555410
chr22:43555489 G
G
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-393C>G
c.3421-393C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555489
chr22:43555505 C
C
 A
A
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.3421-409G>T
c.3421-409G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555505
chr22:43555642 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-546G>A
c.3421-546G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555642
chr22:43555699 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3421-603C>T
c.3421-603C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555699
chr22:43555767 G
G
 A
A
 1 a0004c0012t0001g0097
a0004c0012t0001g0097
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.3421-671C>T
c.3421-671C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555767
chr22:43555775 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-679G>A
c.3421-679G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555775
chr22:43555791 T
T
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-695A>C
c.3421-695A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555791
chr22:43555804 C
C
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-708G>C
c.3421-708G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555804
chr22:43555857 G
G
 T
T
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.3421-761C>A
c.3421-761C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555857
chr22:43555961 G
G
 A
A
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0242
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0030c0032t0001g0126
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.3421-865C>T
c.3421-865C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43555961
chr22:43556014 G
G
 C
C
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3421-918C>G
c.3421-918C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556014
chr22:43556225 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-1129C>T
c.3421-1129C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556225
chr22:43556275 A
A
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-1179T>G
c.3421-1179T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556275
chr22:43556333 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-1237C>T
c.3421-1237C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556333
chr22:43556344 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3421-1248A>G
c.3421-1248A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556344
chr22:43556374 G
G
 A
A
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-1278C>T
c.3421-1278C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556374
chr22:43556376 G
G
 T
T
 1 a0003c0003t0001g0218
a0003c0003t0001g0218
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.3421-1280C>A
c.3421-1280C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556376
chr22:43556436 G
G
 A
A
 1 a0005c0004t0001g0110
a0005c0004t0001g0110
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.3421-1340C>T
c.3421-1340C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556436
chr22:43556787 T
T
 C
C
 1 a0005c0004t0001g0137
a0005c0004t0001g0137
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.3421-1691A>G
c.3421-1691A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556787
chr22:43556896 A
A
 G
G
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-1800T>C
c.3421-1800T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43556896
chr22:43557009 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-1913G>A
c.3421-1913G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557009
chr22:43557119 A
A
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3421-2023T>C
c.3421-2023T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557119
chr22:43557123 T
T
 C
C
 4 a0001c0001t0001g0087
a0001c0001t0001g0153
a0014c0017t0001g0282
others(1): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
 4 HG01433.hp1
HG03491.hp2
HG03492.hp1
others(1): Show 
HG01433.hp1
HG03491.hp2
HG03492.hp1
NA18522.hp1
 intron_variant MODIFIER c.3421-2027A>G
c.3421-2027A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557123
chr22:43557196 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-2100A>G
c.3421-2100A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557196
chr22:43557251 T
T
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3421-2155A>T
c.3421-2155A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557251
chr22:43557251 T
T
 C
C
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.3421-2155A>G
c.3421-2155A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557251
chr22:43557376 C
C
 T
T
 1 a0003c0003t0001g0216
a0003c0003t0001g0216
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.3421-2280G>A
c.3421-2280G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557376
chr22:43557438 T
T
 A
A
 1 a0001c0013t0001g0208
a0001c0013t0001g0208
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.3421-2342A>T
c.3421-2342A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557438
chr22:43557824 C
C
 T
T
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.3421-2728G>A
c.3421-2728G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557824
chr22:43557881 A
A
 T
T
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-2785T>A
c.3421-2785T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557881
chr22:43557888 G
G
 A
A
 17 a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0258
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-2792C>T
c.3421-2792C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557888
chr22:43557920 C
C
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3421-2824G>C
c.3421-2824G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43557920
chr22:43558026 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-2930A>G
c.3421-2930A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558026
chr22:43558237 A
A
 G
G
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3421-3141T>C
c.3421-3141T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558237
chr22:43558337 G
G
 A
A
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.3421-3241C>T
c.3421-3241C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558337
chr22:43558411 AT
AT
 A
A
 14 a0002c0002t0001g0120
a0002c0002t0001g0242
a0002c0002t0001g0243
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0004c0005t0001g0173
a0030c0032t0001g0126
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
 intron_variant MODIFIER c.3421-3316delA
c.3421-3316delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558411
chr22:43558539 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-3443T>C
c.3421-3443T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558539
chr22:43558592 G
G
 A
A
 1 a0001c0001t0003g0001
a0001c0001t0003g0001
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.3421-3496C>T
c.3421-3496C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558592
chr22:43558627 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3421-3531A>G
c.3421-3531A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558627
chr22:43558653 G
G
 A
A
 89 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(86): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0004c0012t0001g0019
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0030c0032t0001g0126
 89 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(86): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3421-3557C>T
c.3421-3557C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558653
chr22:43558695 A
A
 T
T
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.3421-3599T>A
c.3421-3599T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558695
chr22:43558766 AT
AT
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3421-3671delA
c.3421-3671delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558766
chr22:43558889 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-3793T>C
c.3421-3793T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558889
chr22:43558890 C
C
 T
T
 4 a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
a0002c0002t0001g0123
 4 HG01069.hp2
HG01070.hp2
HG01071.hp2
others(1): Show 
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG02976.hp1
 intron_variant MODIFIER c.3421-3794G>A
c.3421-3794G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558890
chr22:43558923 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-3827G>A
c.3421-3827G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558923
chr22:43558925 T
T
 G
G
 1 a0003c0003t0001g0213
a0003c0003t0001g0213
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.3421-3829A>C
c.3421-3829A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558925
chr22:43558946 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-3850G>A
c.3421-3850G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43558946
chr22:43559092 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-3996T>C
c.3421-3996T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559092
chr22:43559247 A
A
 G
G
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.3421-4151T>C
c.3421-4151T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559247
chr22:43559278 T
T
 C
C
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.3421-4182A>G
c.3421-4182A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559278
chr22:43559323 C
C
 T
T
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-4227G>A
c.3421-4227G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559323
chr22:43559404 AC
AC
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-4309delG
c.3421-4309delG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559404
chr22:43559406 T
T
 G
G
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-4310A>C
c.3421-4310A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559406
chr22:43559436 C
C
 T
T
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-4340G>A
c.3421-4340G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559436
chr22:43559665 C
C
 T
T
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 211 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-4569G>A
c.3421-4569G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559665
chr22:43559713 G
G
 C
C
 30 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(27): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3421-4617C>G
c.3421-4617C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559713
chr22:43559879 G
G
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-4783C>T
c.3421-4783C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43559879
chr22:43560160 T
T
 C
C
 1 a0001c0013t0001g0208
a0001c0013t0001g0208
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.3421-5064A>G
c.3421-5064A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560160
chr22:43560267 T
T
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3421-5171A>G
c.3421-5171A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560267
chr22:43560334 G
G
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-5238C>T
c.3421-5238C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560334
chr22:43560742 G
G
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.3421-5646C>T
c.3421-5646C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560742
chr22:43560848 G
G
 A
A
 29 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(26): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 29 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(26): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3421-5752C>T
c.3421-5752C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560848
chr22:43560932 G
G
 A
A
 1 a0002c0002t0001g0133
a0002c0002t0001g0133
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.3421-5836C>T
c.3421-5836C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560932
chr22:43560949 C
C
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3421-5853G>A
c.3421-5853G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560949
chr22:43560950 G
G
 A
A
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.3421-5854C>T
c.3421-5854C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43560950
chr22:43561041 T
T
 C
C
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
 10 HG01243.hp1
HG01496.hp1
HG02723.hp1
others(7): Show 
HG01243.hp1
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.3421-5945A>G
c.3421-5945A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561041
chr22:43561067 A
A
 G
G
 7 a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
others(4): Show 
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0020t0001g0169
 7 NA18944.hp2
NA18946.hp1
NA18947.hp2
others(4): Show 
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18983.hp2
NA18984.hp2
NA19070.hp1
NA19091.hp1
 intron_variant MODIFIER c.3421-5971T>C
c.3421-5971T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561067
chr22:43561087 A
A
 C
C
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.3421-5991T>G
c.3421-5991T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561087
chr22:43561125 A
A
 G
G
 213 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(210): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0134
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 213 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(210): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-6029T>C
c.3421-6029T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561125
chr22:43561233 T
T
 A
A
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3421-6137A>T
c.3421-6137A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561233
chr22:43561356 C
C
 CAAAAAA
CAAAAAA
 12 a0006c0006t0001g0163
a0006c0006t0001g0265
a0006c0006t0001g0267
others(9): Show 
a0006c0006t0001g0163
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0278
a0006c0006t0001g0280
a0032c0042t0001g0275
 12 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(9): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02300.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA20805.hp2
 intron_variant MODIFIER c.3421-6266_3421-626
others(10): Show 
c.3421-6266_3421-6261dupTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561356
chr22:43561366 A
A
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3421-6270T>C
c.3421-6270T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561366
chr22:43561525 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3421-6429C>T
c.3421-6429C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561525
chr22:43561628 G
G
 A
A
 3 a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
 3 HG00280.hp1
HG01175.hp1
HG02451.hp1
HG00280.hp1
HG01175.hp1
HG02451.hp1
 intron_variant MODIFIER c.3421-6532C>T
c.3421-6532C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561628
chr22:43561911 G
G
 T
T
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.3421-6815C>A
c.3421-6815C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561911
chr22:43561944 C
C
 T
T
 30 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(27): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3421-6848G>A
c.3421-6848G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561944
chr22:43561954 G
G
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.3421-6858C>A
c.3421-6858C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43561954
chr22:43562133 C
C
 T
T
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.3421-7037G>A
c.3421-7037G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562133
chr22:43562293 G
G
 A
A
 212 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(209): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 212 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-7197C>T
c.3421-7197C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562293
chr22:43562390 T
T
 C
C
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-7294A>G
c.3421-7294A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562390
chr22:43562536 G
G
 A
A
 2 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0267
a0006c0006t0001g0268
 2 HG01346.hp1
NA20805.hp2
HG01346.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-7440C>T
c.3421-7440C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562536
chr22:43562554 CAGTCAGA
others(46): Show 
CAGTCAGAGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAG
CCCA
 C
C
 1 a0004c0005t0001g0251
a0004c0005t0001g0251
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.3421-7511_3421-745
others(57): Show 
c.3421-7511_3421-7459delTGGGCTGCCTCCCTCCAACCCCCCAC
CGGGCTGCCTCCCTCCCACCTCTGACT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562554
chr22:43562561 A
A
 AGGTGGGA
others(99): Show 
AGGTGGGAGGGAGGCAGCCTGGTGGGGGGGTGGCAGGGAGGCAGCCCGGT
GGGGGGTTGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGCCT
GGTGCGG
 1 a0001c0001t0001g0285
a0001c0001t0001g0285
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.3421-7466_3421-746
others(110): Show 
c.3421-7466_3421-7465insCCGCACCAGGCTGCCTCCCTCCCACC
CCTGACCTGGGCTGCCTCCCTCCAACCCCCCACCGGGCTGCCTCCCTGCC
ACCCCCCCACCAGGCTGCCTCCCTCCCACC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562561
chr22:43562561 A
A
 AGGTGGGA
others(98): Show 
AGGTGGGAGGGAGGCAGCCTGGTGGGGGGTGGCAGGGAGGCAGCCCGGTG
GGGGGTTGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGCCTG
GTGCGG
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0006c0006t0001g0272
 13 HG02257.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG02257.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.3421-7466_3421-746
others(109): Show 
c.3421-7466_3421-7465insCCGCACCAGGCTGCCTCCCTCCCACC
CCTGACCTGGGCTGCCTCCCTCCAACCCCCCACCGGGCTGCCTCCCTGCC
ACCCCCCACCAGGCTGCCTCCCTCCCACC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562561
chr22:43562561 AGGTGGGA
others(46): Show 
AGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAGCCCAGGT
CAGG
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-7518_3421-746
others(57): Show 
c.3421-7518_3421-7466delCCTGACCTGGGCTGCCTCCCTCCAAC
CCCCCACCGGGCTGCCTCCCTCCCACC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562561
chr22:43562561 AGGTGGGA
others(125): Show 
AGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAGCCCAGGT
CAGGGGTGGGAGGGAGGCAGCCTGGTGCGGGGTGGGAGGGAGGCAGCCCG
GTGGGGGATGGGAGGGAGGCAGCCCAGGTCAGG
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3421-7597_3421-746
others(4): Show 
c.3421-7597_3421-7466del
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562561
chr22:43562561 AGGTGGGA
others(151): Show 
AGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAGCCCAGGT
CAGGGGTGGGAGGGAGGCAGCCTGGTGCGGGGTGGGAGGGAGGCAGCCCG
GTGGGGGATGGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGC
CTGGTGCGG
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3421-7623_3421-746
others(4): Show 
c.3421-7623_3421-7466del
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562561
chr22:43562567 G
G
 GAGGGAGG
others(19): Show 
GAGGGAGGCAGCCTGGTGGGGGGTGGC
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0031c0022t0001g0237
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.3421-7472_3421-747
others(30): Show 
c.3421-7472_3421-7471insGCCACCCCCCACCAGGCTGCCTCCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562567
chr22:43562567 G
G
 GAGGGAGG
others(98): Show 
GAGGGAGGCAGCCTGGTGGGGGGTGGCAGGGAGGCAGCCCGGTGGGGGGT
TGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGCCTGGTGCGG
GGTGGC
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-7472_3421-747
others(109): Show 
c.3421-7472_3421-7471insGCCACCCCGCACCAGGCTGCCTCCCT
CCCACCCCTGACCTGGGCTGCCTCCCTCCAACCCCCCACCGGGCTGCCTC
CCTGCCACCCCCCACCAGGCTGCCTCCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562567
chr22:43562591 TGGAGGGA
others(72): Show 
TGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGCCTGGTGCGG
GGTGGGAGGGAGGCAGCCCGGTGGGGGATG
 T
T
 79 a0001c0001t0001g0236
a0001c0013t0001g0187
a0001c0013t0001g0188
others(76): Show 
a0001c0001t0001g0236
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0250
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
 79 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(76): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp2
HG02074.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-7574_3421-749
others(83): Show 
c.3421-7574_3421-7496delCATCCCCCACCGGGCTGCCTCCCTCC
CACCCCGCACCAGGCTGCCTCCCTCCCACCCCTGACCTGGGCTGCCTCCC
TCC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562591
chr22:43562638 C
C
 G
G
 86 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(83): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0029c0031t0002g0012
 86 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3421-7542G>C
c.3421-7542G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562638
chr22:43562646 G
G
 C
C
 86 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(83): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0029c0031t0002g0012
 86 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3421-7550C>G
c.3421-7550C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562646
chr22:43562668 A
A
 G
G
 131 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(128): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 131 HG00280.hp2
HG00323.hp2
HG00423.hp2
others(128): Show 
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.3421-7572T>C
c.3421-7572T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562668
chr22:43562670 G
G
 T
T
 131 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(128): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 131 HG00280.hp2
HG00323.hp2
HG00423.hp2
others(128): Show 
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.3421-7574C>A
c.3421-7574C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562670
chr22:43562717 C
C
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3421-7621G>C
c.3421-7621G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562717
chr22:43562721 GTGGGAGG
others(98): Show 
GTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAGCCCAGGTCA
GGGGTGGGAGGGAGGCAGCCTGGTGCGGGGTGGGAGGGAGGCAGCCCGGT
GGGGGA
 G
G
 13 a0002c0002t0001g0120
a0002c0002t0001g0242
a0002c0002t0001g0243
others(10): Show 
a0002c0002t0001g0120
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0030c0032t0001g0126
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
 intron_variant MODIFIER c.3421-7730_3421-762
others(4): Show 
c.3421-7730_3421-7626del
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562721
chr22:43562725 G
G
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3421-7629C>G
c.3421-7629C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562725
chr22:43562791 T
T
 A
A
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3421-7695A>T
c.3421-7695A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562791
chr22:43562814 G
G
 A
A
 17 a0001c0001t0001g0087
a0006c0006t0001g0163
a0006c0006t0001g0257
others(14): Show 
a0001c0001t0001g0087
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01433.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-7718C>T
c.3421-7718C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562814
chr22:43562822 G
G
 C
C
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3421-7726C>G
c.3421-7726C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562822
chr22:43562826 A
A
 G
G
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3421-7730T>C
c.3421-7730T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562826
chr22:43562828 G
G
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3421-7732C>T
c.3421-7732C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562828
chr22:43562973 G
G
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-7877C>T
c.3421-7877C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43562973
chr22:43563109 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3421-8013G>A
c.3421-8013G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563109
chr22:43563179 G
G
 A
A
 8 a0001c0001t0001g0039
a0001c0001t0001g0083
a0001c0001t0002g0006
others(5): Show 
a0001c0001t0001g0039
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0009
a0001c0001t0002g0010
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02717.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02717.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03834.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-8083C>T
c.3421-8083C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563179
chr22:43563302 A
A
 G
G
 60 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0006
others(57): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0123
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
 60 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(57): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01433.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-8206T>C
c.3421-8206T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563302
chr22:43563341 G
G
 C
C
 1 a0001c0001t0003g0001
a0001c0001t0003g0001
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.3421-8245C>G
c.3421-8245C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563341
chr22:43563404 C
C
 CA
CA
 3 a0002c0002t0001g0120
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0002t0001g0120
a0002c0019t0001g0124
a0002c0019t0001g0125
 3 HG01934.hp1
HG02280.hp2
HG03579.hp2
HG01934.hp1
HG02280.hp2
HG03579.hp2
 intron_variant MODIFIER c.3421-8309dupT
c.3421-8309dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563404
chr22:43563475 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3421-8379C>T
c.3421-8379C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563475
chr22:43563574 A
A
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3421-8478T>G
c.3421-8478T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563574
chr22:43563655 C
C
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3421-8559G>A
c.3421-8559G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563655
chr22:43563661 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3421-8565C>T
c.3421-8565C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563661
chr22:43563732 T
T
 C
C
 3 a0003c0003t0001g0220
a0003c0003t0001g0223
a0018c0044t0001g0221
a0003c0003t0001g0220
a0003c0003t0001g0223
a0018c0044t0001g0221
 3 HG00597.hp1
NA19081.hp2
NA19091.hp2
HG00597.hp1
NA19081.hp2
NA19091.hp2
 intron_variant MODIFIER c.3421-8636A>G
c.3421-8636A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563732
chr22:43563753 T
T
 C
C
 1 a0004c0005t0001g0252
a0004c0005t0001g0252
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.3421-8657A>G
c.3421-8657A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563753
chr22:43563758 A
A
 T
T
 1 a0004c0012t0001g0019
a0004c0012t0001g0019
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.3421-8662T>A
c.3421-8662T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563758
chr22:43563760 T
T
 C
C
 76 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(73): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
 76 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(73): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3421-8664A>G
c.3421-8664A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563760
chr22:43563950 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-8854C>T
c.3421-8854C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563950
chr22:43563978 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3421-8882C>T
c.3421-8882C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563978
chr22:43563989 A
A
 G
G
 215 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(212): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 215 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(212): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-8893T>C
c.3421-8893T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43563989
chr22:43564048 G
G
 A
A
 169 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(166): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
 169 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-8952C>T
c.3421-8952C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564048
chr22:43564110 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.3421-9014C>T
c.3421-9014C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564110
chr22:43564130 C
C
 T
T
 7 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0009
others(4): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0009
a0001c0001t0002g0010
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 7 HG02055.hp1
HG02572.hp2
HG02717.hp2
others(4): Show 
HG02055.hp1
HG02572.hp2
HG02717.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG06807.hp1
 intron_variant MODIFIER c.3421-9034G>A
c.3421-9034G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564130
chr22:43564152 A
A
 G
G
 13 a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0030c0032t0001g0126
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.3421-9056T>C
c.3421-9056T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564152
chr22:43564176 G
G
 A
A
 1 a0003c0003t0001g0184
a0003c0003t0001g0184
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.3421-9080C>T
c.3421-9080C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564176
chr22:43564300 CA
CA
 C
C
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-9205delT
c.3421-9205delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564300
chr22:43564459 G
G
 A
A
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.3421-9363C>T
c.3421-9363C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564459
chr22:43564459 G
G
 GA
GA
 75 a0001c0001t0001g0236
a0001c0001t0002g0007
a0001c0001t0002g0008
others(72): Show 
a0001c0001t0001g0236
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0250
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 75 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(72): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3421-9364dupT
c.3421-9364dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564459
chr22:43564460 A
A
 G
G
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.3421-9364T>C
c.3421-9364T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564460
chr22:43564483 T
T
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-9387A>T
c.3421-9387A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564483
chr22:43564906 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3421-9810G>A
c.3421-9810G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564906
chr22:43564938 G
G
 A
A
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.3421-9842C>T
c.3421-9842C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43564938
chr22:43565155 G
G
 A
A
 15 a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0247
others(12): Show 
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0016c0026t0001g0152
 15 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(12): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG01069.hp1
HG02135.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18999.hp2
NA19000.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
 intron_variant MODIFIER c.3421-10059C>T
c.3421-10059C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565155
chr22:43565183 A
A
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3421-10087T>G
c.3421-10087T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565183
chr22:43565266 C
C
 T
T
 1 a0001c0027t0001g0075
a0001c0027t0001g0075
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.3421-10170G>A
c.3421-10170G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565266
chr22:43565320 G
G
 C
C
 1 a0008c0008t0001g0037
a0008c0008t0001g0037
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.3421-10224C>G
c.3421-10224C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565320
chr22:43565375 T
T
 G
G
 2 a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0040
a0001c0001t0001g0042
 2 NA18950.hp1
NA19057.hp1
NA18950.hp1
NA19057.hp1
 intron_variant MODIFIER c.3421-10279A>C
c.3421-10279A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565375
chr22:43565409 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3421-10313T>C
c.3421-10313T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565409
chr22:43565652 T
T
 C
C
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3421-10556A>G
c.3421-10556A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565652
chr22:43565698 T
T
 C
C
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.3420+10599A>G
c.3420+10599A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565698
chr22:43565720 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3420+10577C>T
c.3420+10577C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565720
chr22:43565731 G
G
 A
A
 1 a0003c0003t0001g0184
a0003c0003t0001g0184
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.3420+10566C>T
c.3420+10566C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565731
chr22:43565748 C
C
 A
A
 202 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(199): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 202 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+10549G>T
c.3420+10549G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565748
chr22:43565758 GA
GA
 G
G
 44 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
others(41): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0047
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0190
a0001c0001t0001g0199
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0047t0001g0178
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
 44 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(41): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG01074.hp2
HG01258.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02155.hp1
HG03834.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA19000.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
 intron_variant MODIFIER c.3420+10538delT
c.3420+10538delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565758
chr22:43565806 T
T
 A
A
 5 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(2): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
 5 HG01243.hp1
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01243.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.3420+10491A>T
c.3420+10491A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565806
chr22:43565839 A
A
 G
G
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.3420+10458T>C
c.3420+10458T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43565839
chr22:43566011 CA
CA
 C
C
 249 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
others(246): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 249 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(246): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+10285delT
c.3420+10285delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566011
chr22:43566011 CAA
CAA
 C
C
 39 a0001c0001t0001g0024
a0001c0001t0001g0236
a0001c0013t0001g0208
others(36): Show 
a0001c0001t0001g0024
a0001c0001t0001g0236
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0219
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 39 HG00099.hp1
HG00642.hp2
HG01070.hp2
others(36): Show 
HG00099.hp1
HG00642.hp2
HG01070.hp2
HG01081.hp1
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19030.hp2
NA19043.hp2
NA19077.hp2
NA19240.hp1
 intron_variant MODIFIER c.3420+10284_3420+10
others(8): Show 
c.3420+10284_3420+10285delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566011
chr22:43566127 G
G
 A
A
 1 a0003c0003t0001g0186
a0003c0003t0001g0186
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.3420+10170C>T
c.3420+10170C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566127
chr22:43566148 A
A
 G
G
 1 a0001c0013t0001g0188
a0001c0013t0001g0188
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.3420+10149T>C
c.3420+10149T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566148
chr22:43566234 G
G
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3420+10063C>T
c.3420+10063C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566234
chr22:43566441 A
A
 G
G
 92 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(89): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 92 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(89): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3420+9856T>C
c.3420+9856T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566441
chr22:43566493 G
G
 C
C
 7 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
 7 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(4): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02602.hp1
HG02735.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.3420+9804C>G
c.3420+9804C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566493
chr22:43566603 C
C
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3420+9694G>A
c.3420+9694G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566603
chr22:43566669 C
C
 T
T
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 45 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+9628G>A
c.3420+9628G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566669
chr22:43566788 T
T
 C
C
 162 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(159): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 162 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+9509A>G
c.3420+9509A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566788
chr22:43566816 C
C
 T
T
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3420+9481G>A
c.3420+9481G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566816
chr22:43566850 A
A
 ACC
ACC
 59 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(56): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0030c0032t0001g0126
a0032c0042t0001g0275
 59 HG00099.hp1
HG00323.hp2
HG00642.hp2
others(56): Show 
HG00099.hp1
HG00323.hp2
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp2
NA18954.hp1
NA19007.hp1
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.3420+9445_3420+944
others(6): Show 
c.3420+9445_3420+9446dupGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566850
chr22:43566852 C
C
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3420+9445G>C
c.3420+9445G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566852
chr22:43566978 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.3420+9319G>A
c.3420+9319G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43566978
chr22:43567071 T
T
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3420+9226A>T
c.3420+9226A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567071
chr22:43567109 CTCCTCCT
others(14): Show 
CTCCTCCTCATCATCCTCCTCG
 C
C
 17 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(14): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0013c0018t0001g0090
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.3420+9167_3420+918
others(25): Show 
c.3420+9167_3420+9187delCGAGGAGGATGATGAGGAGGA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567109
chr22:43567336 C
C
 T
T
 1 a0013c0018t0001g0092
a0013c0018t0001g0092
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.3420+8961G>A
c.3420+8961G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567336
chr22:43567449 C
C
 T
T
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3420+8848G>A
c.3420+8848G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567449
chr22:43567454 T
T
 C
C
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3420+8843A>G
c.3420+8843A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567454
chr22:43567606 G
G
 A
A
 1 a0003c0003t0001g0216
a0003c0003t0001g0216
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.3420+8691C>T
c.3420+8691C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567606
chr22:43567754 C
C
 A
A
 3 a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG03491.hp2
HG03492.hp1
NA18522.hp1
HG03491.hp2
HG03492.hp1
NA18522.hp1
 intron_variant MODIFIER c.3420+8543G>T
c.3420+8543G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567754
chr22:43567780 A
A
 G
G
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.3420+8517T>C
c.3420+8517T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567780
chr22:43567871 C
C
 T
T
 1 a0002c0002t0001g0118
a0002c0002t0001g0118
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.3420+8426G>A
c.3420+8426G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43567871
chr22:43568620 G
G
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+7677C>T
c.3420+7677C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43568620
chr22:43569046 G
G
 A
A
 28 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(25): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 28 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(25): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3420+7251C>T
c.3420+7251C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569046
chr22:43569140 C
C
 T
T
 1 a0002c0002t0001g0246
a0002c0002t0001g0246
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.3420+7157G>A
c.3420+7157G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569140
chr22:43569385 T
T
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.3420+6912A>G
c.3420+6912A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569385
chr22:43569513 C
C
 G
G
 212 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(209): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 212 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+6784G>C
c.3420+6784G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569513
chr22:43569559 A
A
 G
G
 212 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(209): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 212 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+6738T>C
c.3420+6738T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569559
chr22:43569653 C
C
 A
A
 3 a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
 3 HG01070.hp1
HG01071.hp1
HG01261.hp2
HG01070.hp1
HG01071.hp1
HG01261.hp2
 intron_variant MODIFIER c.3420+6644G>T
c.3420+6644G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569653
chr22:43569657 C
C
 T
T
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3420+6640G>A
c.3420+6640G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569657
chr22:43569666 C
C
 T
T
 28 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(25): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 28 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(25): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3420+6631G>A
c.3420+6631G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569666
chr22:43569674 C
C
 T
T
 3 a0002c0002t0001g0120
a0002c0002t0001g0264
a0030c0032t0001g0126
a0002c0002t0001g0120
a0002c0002t0001g0264
a0030c0032t0001g0126
 3 HG02717.hp1
HG02922.hp2
HG03579.hp2
HG02717.hp1
HG02922.hp2
HG03579.hp2
 intron_variant MODIFIER c.3420+6623G>A
c.3420+6623G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569674
chr22:43569965 T
T
 C
C
 61 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(58): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0032c0042t0001g0275
 61 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(58): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+6332A>G
c.3420+6332A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43569965
chr22:43570204 G
G
 A
A
 1 a0003c0003t0001g0213
a0003c0003t0001g0213
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.3420+6093C>T
c.3420+6093C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570204
chr22:43570271 G
G
 T
T
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.3420+6026C>A
c.3420+6026C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570271
chr22:43570482 G
G
 T
T
 1 a0001c0001t0001g0032
a0001c0001t0001g0032
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.3420+5815C>A
c.3420+5815C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570482
chr22:43570520 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3420+5777G>A
c.3420+5777G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570520
chr22:43570543 T
T
 C
C
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.3420+5754A>G
c.3420+5754A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570543
chr22:43570580 A
A
 G
G
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.3420+5717T>C
c.3420+5717T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570580
chr22:43570602 T
T
 C
C
 2 a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0121
a0002c0002t0001g0129
 2 HG01884.hp1
HG02809.hp1
HG01884.hp1
HG02809.hp1
 intron_variant MODIFIER c.3420+5695A>G
c.3420+5695A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570602
chr22:43570607 G
G
 C
C
 213 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(210): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 213 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(210): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+5690C>G
c.3420+5690C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570607
chr22:43570612 C
C
 CT
CT
 195 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(192): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 195 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+5684dupA
c.3420+5684dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570612
chr22:43570612 C
C
 CTT
CTT
 15 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(12): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0030c0032t0001g0126
 15 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(12): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.3420+5683_3420+568
others(6): Show 
c.3420+5683_3420+5684dupAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570612
chr22:43570671 C
C
 T
T
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.3420+5626G>A
c.3420+5626G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570671
chr22:43570810 G
G
 A
A
 1 a0003c0003t0001g0207
a0003c0003t0001g0207
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.3420+5487C>T
c.3420+5487C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570810
chr22:43570848 G
G
 C
C
 1 a0004c0009t0001g0166
a0004c0009t0001g0166
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.3420+5449C>G
c.3420+5449C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570848
chr22:43570925 C
C
 T
T
 14 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(11): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
 14 HG01884.hp1
HG01934.hp1
HG02145.hp1
others(11): Show 
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03540.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.3420+5372G>A
c.3420+5372G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43570925
chr22:43571045 G
G
 T
T
 1 a0001c0013t0001g0233
a0001c0013t0001g0233
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.3420+5252C>A
c.3420+5252C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571045
chr22:43571060 C
C
 T
T
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3420+5237G>A
c.3420+5237G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571060
chr22:43571107 C
C
 A
A
 1 a0005c0004t0001g0105
a0005c0004t0001g0105
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.3420+5190G>T
c.3420+5190G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571107
chr22:43571118 G
G
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3420+5179C>T
c.3420+5179C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571118
chr22:43571274 C
C
 T
T
 2 a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0072
a0003c0003t0001g0214
 2 HG01099.hp2
HG01943.hp2
HG01099.hp2
HG01943.hp2
 intron_variant MODIFIER c.3420+5023G>A
c.3420+5023G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571274
chr22:43571350 G
G
 A
A
 1 a0006c0006t0001g0269
a0006c0006t0001g0269
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.3420+4947C>T
c.3420+4947C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571350
chr22:43571402 C
C
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3420+4895G>T
c.3420+4895G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571402
chr22:43571446 T
T
 G
G
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.3420+4851A>C
c.3420+4851A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571446
chr22:43571458 G
G
 A
A
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.3420+4839C>T
c.3420+4839C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571458
chr22:43571639 A
A
 G
G
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.3420+4658T>C
c.3420+4658T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571639
chr22:43571909 G
G
 T
T
 1 a0005c0004t0001g0234
a0005c0004t0001g0234
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.3420+4388C>A
c.3420+4388C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571909
chr22:43571966 G
G
 A
A
 1 a0001c0001t0002g0013
a0001c0001t0002g0013
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.3420+4331C>T
c.3420+4331C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43571966
chr22:43572232 G
G
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.3420+4065C>T
c.3420+4065C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43572232
chr22:43572259 G
G
 A
A
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3420+4038C>T
c.3420+4038C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43572259
chr22:43572338 T
T
 C
C
 1 a0002c0002t0001g0147
a0002c0002t0001g0147
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.3420+3959A>G
c.3420+3959A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43572338
chr22:43573004 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3420+3293C>T
c.3420+3293C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573004
chr22:43573346 T
T
 C
C
 1 a0003c0003t0001g0213
a0003c0003t0001g0213
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.3420+2951A>G
c.3420+2951A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573346
chr22:43573471 G
G
 GC
GC
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+2825dupG
c.3420+2825dupG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573471
chr22:43573645 C
C
 T
T
 3 a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0020t0001g0169
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0020t0001g0169
 3 NA18944.hp2
NA18947.hp2
NA18983.hp2
NA18944.hp2
NA18947.hp2
NA18983.hp2
 intron_variant MODIFIER c.3420+2652G>A
c.3420+2652G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573645
chr22:43573732 C
C
 CA
CA
 10 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0192
others(7): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0192
a0003c0003t0001g0182
a0003c0003t0001g0220
a0003c0003t0001g0232
a0003c0003t0008g0287
a0004c0005t0001g0249
a0004c0005t0001g0252
a0019c0043t0001g0224
 10 HG00597.hp1
HG02074.hp2
HG02738.hp2
others(7): Show 
HG00597.hp1
HG02074.hp2
HG02738.hp2
HG03942.hp2
NA18939.hp2
NA18945.hp1
NA18972.hp1
NA18979.hp1
NA19000.hp1
NA19000.hp2
 intron_variant MODIFIER c.3420+2564dupT
c.3420+2564dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573732
chr22:43573732 CA
CA
 C
C
 51 a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0083
others(48): Show 
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0083
a0001c0001t0001g0255
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0031
a0001c0023t0001g0254
a0002c0002t0001g0123
a0002c0002t0001g0259
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0137
a0005c0020t0001g0161
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0017c0025t0002g0011
a0020c0048t0001g0177
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 51 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(48): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG01081.hp2
HG01243.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp2
HG03516.hp1
HG03579.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18941.hp1
NA18943.hp2
NA18967.hp1
NA18983.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19083.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.3420+2564delT
c.3420+2564delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573732
chr22:43573732 CAA
CAA
 C
C
 41 a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
others(38): Show 
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0236
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
a0031c0022t0001g0237
 41 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(38): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA19007.hp1
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3420+2563_3420+256
others(6): Show 
c.3420+2563_3420+2564delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573732
chr22:43573836 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3420+2461T>C
c.3420+2461T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573836
chr22:43573876 G
G
 A
A
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.3420+2421C>T
c.3420+2421C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573876
chr22:43573896 T
T
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3420+2401A>T
c.3420+2401A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573896
chr22:43573950 T
T
 C
C
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 45 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+2347A>G
c.3420+2347A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43573950
chr22:43574083 G
G
 A
A
 1 a0005c0004t0001g0127
a0005c0004t0001g0127
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.3420+2214C>T
c.3420+2214C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574083
chr22:43574120 C
C
 A
A
 93 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(90): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 93 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3420+2177G>T
c.3420+2177G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574120
chr22:43574135 G
G
 GA
GA
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3420+2161dupT
c.3420+2161dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574135
chr22:43574135 GA
GA
 G
G
 5 a0003c0003t0001g0213
a0003c0003t0001g0228
a0003c0003t0001g0230
others(2): Show 
a0003c0003t0001g0213
a0003c0003t0001g0228
a0003c0003t0001g0230
a0013c0018t0001g0090
a0019c0043t0001g0224
 5 HG00438.hp2
HG04228.hp1
NA18972.hp1
others(2): Show 
HG00438.hp2
HG04228.hp1
NA18972.hp1
NA19057.hp2
NA20129.hp1
 intron_variant MODIFIER c.3420+2161delT
c.3420+2161delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574135
chr22:43574177 C
C
 G
G
 147 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(144): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 147 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(144): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.3420+2120G>C
c.3420+2120G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574177
chr22:43574276 C
C
 T
T
 228 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(225): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 228 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(225): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+2021G>A
c.3420+2021G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574276
chr22:43574358 C
C
 T
T
 1 a0026c0028t0003g0003
a0026c0028t0003g0003
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.3420+1939G>A
c.3420+1939G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574358
chr22:43574440 C
C
 T
T
 1 a0015c0024t0001g0128
a0015c0024t0001g0128
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.3420+1857G>A
c.3420+1857G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574440
chr22:43574645 C
C
 CA
CA
 9 a0001c0013t0001g0208
a0001c0023t0001g0254
a0002c0002t0001g0145
others(6): Show 
a0001c0013t0001g0208
a0001c0023t0001g0254
a0002c0002t0001g0145
a0002c0002t0001g0146
a0004c0012t0001g0097
a0005c0004t0001g0108
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 9 HG01081.hp1
HG01257.hp2
HG01258.hp1
others(6): Show 
HG01081.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp2
HG02135.hp2
HG02280.hp1
HG02622.hp1
NA18983.hp1
NA19030.hp1
 intron_variant MODIFIER c.3420+1651dupT
c.3420+1651dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574645
chr22:43574645 CA
CA
 C
C
 147 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(144): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0133
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
 147 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(144): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+1651delT
c.3420+1651delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574645
chr22:43574645 CAA
CAA
 C
C
 26 a0001c0001t0001g0083
a0001c0001t0001g0285
a0001c0001t0002g0006
others(23): Show 
a0001c0001t0001g0083
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0003c0003t0001g0072
a0003c0003t0001g0225
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0023c0034t0001g0082
a0029c0031t0002g0012
a0032c0042t0001g0275
 26 HG00323.hp2
HG01175.hp2
HG01346.hp1
others(23): Show 
HG00323.hp2
HG01175.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG06807.hp1
NA19084.hp2
NA20805.hp2
 intron_variant MODIFIER c.3420+1650_3420+165
others(6): Show 
c.3420+1650_3420+1651delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574645
chr22:43574723 G
G
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3420+1574C>T
c.3420+1574C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574723
chr22:43574737 C
C
 T
T
 1 a0007c0014t0005g0014
a0007c0014t0005g0014
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.3420+1560G>A
c.3420+1560G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574737
chr22:43574750 C
C
 T
T
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 45 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+1547G>A
c.3420+1547G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574750
chr22:43574853 A
A
 G
G
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 45 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+1444T>C
c.3420+1444T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574853
chr22:43574993 A
A
 G
G
 228 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(225): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 228 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(225): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+1304T>C
c.3420+1304T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43574993
chr22:43575174 T
T
 TTTG
TTTG
 136 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
others(133): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
a0030c0032t0001g0126
 136 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(133): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+1120_3420+112
others(7): Show 
c.3420+1120_3420+1122dupCAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575174
chr22:43575174 TTTGTTG
TTTGTTG
 T
T
 3 a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
 3 HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
 intron_variant MODIFIER c.3420+1117_3420+112
others(10): Show 
c.3420+1117_3420+1122delCAACAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575174
chr22:43575177 G
G
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3420+1120C>A
c.3420+1120C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575177
chr22:43575222 G
G
 A
A
 2 a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0211
a0003c0003t0001g0212
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.3420+1075C>T
c.3420+1075C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575222
chr22:43575358 G
G
 GT
GT
 9 a0004c0005t0001g0021
a0004c0005t0001g0088
a0004c0005t0001g0172
others(6): Show 
a0004c0005t0001g0021
a0004c0005t0001g0088
a0004c0005t0001g0172
a0004c0005t0001g0252
a0004c0009t0001g0168
a0004c0009t0001g0176
a0005c0004t0001g0106
a0007c0014t0002g0015
a0007c0014t0002g0017
 9 HG00140.hp1
HG02074.hp1
HG02135.hp1
others(6): Show 
HG00140.hp1
HG02074.hp1
HG02135.hp1
HG02572.hp1
NA18960.hp2
NA18999.hp2
NA19000.hp1
NA19030.hp2
NA19091.hp1
 intron_variant MODIFIER c.3420+938dupA
c.3420+938dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575358
chr22:43575358 GT
GT
 G
G
 55 a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0087
others(52): Show 
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0087
a0001c0001t0001g0192
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0013t0001g0233
a0001c0023t0001g0254
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0240
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0225
a0003c0003t0008g0287
a0006c0006t0001g0273
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0037
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0014c0017t0001g0282
a0014c0017t0001g0283
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
 55 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(52): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02074.hp2
HG02083.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp1
NA18906.hp2
NA18967.hp1
NA19000.hp2
NA19007.hp1
NA19083.hp1
NA19084.hp2
NA19240.hp1
 intron_variant MODIFIER c.3420+938delA
c.3420+938delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575358
chr22:43575358 GTT
GTT
 G
G
 153 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(150): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0239
a0001c0001t0001g0256
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0047t0001g0178
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0159
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 153 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(150): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02109.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3420+937_3420+938d
others(4): Show 
c.3420+937_3420+938delAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575358
chr22:43575358 GTTT
GTTT
 G
G
 12 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
others(9): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0046t0001g0067
 12 HG00639.hp1
HG02055.hp2
HG02145.hp2
others(9): Show 
HG00639.hp1
HG02055.hp2
HG02145.hp2
HG02300.hp2
HG02886.hp1
HG02895.hp2
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.3420+936_3420+938d
others(5): Show 
c.3420+936_3420+938delAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575358
chr22:43575446 G
G
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3420+851C>T
c.3420+851C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575446
chr22:43575468 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3420+829T>C
c.3420+829T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575468
chr22:43575490 G
G
 T
T
 2 a0003c0003t0001g0222
a0003c0003t0001g0225
a0003c0003t0001g0222
a0003c0003t0001g0225
 2 NA19004.hp1
NA19084.hp2
NA19004.hp1
NA19084.hp2
 intron_variant MODIFIER c.3420+807C>A
c.3420+807C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575490
chr22:43575562 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3420+735A>G
c.3420+735A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575562
chr22:43575684 G
G
 A
A
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.3420+613C>T
c.3420+613C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575684
chr22:43575776 G
G
 C
C
 1 a0003c0003t0001g0227
a0003c0003t0001g0227
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.3420+521C>G
c.3420+521C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575776
chr22:43575844 T
T
 C
C
 1 a0002c0002t0001g0147
a0002c0002t0001g0147
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.3420+453A>G
c.3420+453A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575844
chr22:43575939 T
T
 C
C
 2 a0001c0001t0001g0258
a0001c0046t0001g0067
a0001c0001t0001g0258
a0001c0046t0001g0067
 2 HG02055.hp2
HG02886.hp1
HG02055.hp2
HG02886.hp1
 intron_variant MODIFIER c.3420+358A>G
c.3420+358A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43575939
chr22:43576026 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.3420+271G>A
c.3420+271G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 26/31 chr22 43576026
chr22:43576886 A
A
 G
G
 91 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(88): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 91 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(88): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3229-398T>C
c.3229-398T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43576886
chr22:43576888 T
T
 A
A
 91 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(88): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 91 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(88): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3229-400A>T
c.3229-400A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43576888
chr22:43576944 T
T
 C
C
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3229-456A>G
c.3229-456A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43576944
chr22:43576953 A
A
 C
C
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3229-465T>G
c.3229-465T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43576953
chr22:43576970 T
T
 C
C
 1 a0002c0002t0001g0120
a0002c0002t0001g0120
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.3229-482A>G
c.3229-482A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43576970
chr22:43577283 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3229-795C>T
c.3229-795C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577283
chr22:43577349 G
G
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3229-861C>T
c.3229-861C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577349
chr22:43577410 A
A
 C
C
 2 a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0001g0076
a0001c0001t0001g0255
 2 NA18943.hp2
NA18967.hp1
NA18943.hp2
NA18967.hp1
 intron_variant MODIFIER c.3229-922T>G
c.3229-922T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577410
chr22:43577420 A
A
 G
G
 15 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(12): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
 15 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(12): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.3229-932T>C
c.3229-932T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577420
chr22:43577469 G
G
 A
A
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.3229-981C>T
c.3229-981C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577469
chr22:43577574 G
G
 C
C
 1 a0003c0003t0001g0232
a0003c0003t0001g0232
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.3229-1086C>G
c.3229-1086C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577574
chr22:43577676 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.3229-1188G>A
c.3229-1188G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577676
chr22:43577684 A
A
 G
G
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.3229-1196T>C
c.3229-1196T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577684
chr22:43577816 A
A
 G
G
 1 a0003c0003t0001g0209
a0003c0003t0001g0209
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.3229-1328T>C
c.3229-1328T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577816
chr22:43577826 G
G
 A
A
 17 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(14): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0156
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3229-1338C>T
c.3229-1338C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577826
chr22:43577995 T
T
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3229-1507A>T
c.3229-1507A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43577995
chr22:43578192 C
C
 T
T
 1 a0003c0003t0001g0223
a0003c0003t0001g0223
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.3229-1704G>A
c.3229-1704G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578192
chr22:43578460 G
G
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.3229-1972C>T
c.3229-1972C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578460
chr22:43578685 T
T
 C
C
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.3228+1779A>G
c.3228+1779A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578685
chr22:43578785 CGCAGGCA
others(13): Show 
CGCAGGCATCATTCCCTACAT
 C
C
 32 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(29): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
 32 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(29): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3228+1659_3228+167
others(24): Show 
c.3228+1659_3228+1678delATGTAGGGAATGATGCCTGC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578785
chr22:43578800 C
C
 CTACATGC
others(33): Show 
CTACATGCAGGCATCATTCCCTACACGCAGGCATCATTCCG
 3 a0001c0023t0001g0254
a0014c0017t0001g0282
a0014c0017t0001g0283
a0001c0023t0001g0254
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG02622.hp1
HG03491.hp2
HG03492.hp1
HG02622.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3228+1624_3228+166
others(44): Show 
c.3228+1624_3228+1663dupCGGAATGATGCCTGCGTGTAGGGAAT
GATGCCTGCATGTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578800
chr22:43578800 CTACATGC
others(33): Show 
CTACATGCAGGCATCATTCCCTACACGCAGGCATCATTCCG
 C
C
 44 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(41): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 44 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3228+1624_3228+166
others(44): Show 
c.3228+1624_3228+1663delCGGAATGATGCCTGCGTGTAGGGAAT
GATGCCTGCATGTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578800
chr22:43578838 C
C
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1626G>C
c.3228+1626G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578838
chr22:43578839 C
C
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1625G>A
c.3228+1625G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578839
chr22:43578840 G
G
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1624C>G
c.3228+1624C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578840
chr22:43578844 A
A
 G
G
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3228+1620T>C
c.3228+1620T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578844
chr22:43578849 G
G
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1615C>T
c.3228+1615C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578849
chr22:43578860 C
C
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1604G>T
c.3228+1604G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578860
chr22:43578864 A
A
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1600T>C
c.3228+1600T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578864
chr22:43578865 C
C
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1599G>A
c.3228+1599G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578865
chr22:43578866 G
G
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1598C>T
c.3228+1598C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578866
chr22:43578867 C
C
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1597G>A
c.3228+1597G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578867
chr22:43578878 G
G
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1586C>G
c.3228+1586C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578878
chr22:43578879 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1585A>G
c.3228+1585A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578879
chr22:43578880 C
C
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1584G>C
c.3228+1584G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578880
chr22:43578885 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1579A>G
c.3228+1579A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578885
chr22:43578887 C
C
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1577G>A
c.3228+1577G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578887
chr22:43578889 A
A
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1575T>C
c.3228+1575T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578889
chr22:43578898 C
C
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1566G>C
c.3228+1566G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578898
chr22:43578900 A
A
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1564T>A
c.3228+1564T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578900
chr22:43578903 C
C
 T
T
 8 a0002c0002t0001g0141
a0003c0003t0001g0206
a0003c0003t0001g0211
others(5): Show 
a0002c0002t0001g0141
a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0284
 8 HG01074.hp1
HG01255.hp1
HG01257.hp1
others(5): Show 
HG01074.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG03654.hp2
HG03669.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3228+1561G>A
c.3228+1561G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578903
chr22:43578904 G
G
 A
A
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0003c0003t0001g0222
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19004.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3228+1560C>T
c.3228+1560C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578904
chr22:43578906 A
A
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1558T>C
c.3228+1558T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578906
chr22:43578907 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1557A>G
c.3228+1557A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578907
chr22:43578909 G
G
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1555C>T
c.3228+1555C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578909
chr22:43578920 G
G
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1544C>T
c.3228+1544C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578920
chr22:43578925 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3228+1539G>A
c.3228+1539G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578925
chr22:43578926 G
G
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1538C>T
c.3228+1538C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578926
chr22:43578938 G
G
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1526C>G
c.3228+1526C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578938
chr22:43578940 T
T
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1524A>C
c.3228+1524A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578940
chr22:43578945 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1519A>G
c.3228+1519A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578945
chr22:43578949 A
A
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1515T>C
c.3228+1515T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578949
chr22:43578960 A
A
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1504T>G
c.3228+1504T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578960
chr22:43578965 CATAGGCA
others(673): Show 
CATAGGCATCATTCCGTACACGCAGGCATCATTCCGTACACGCAGGCATC
ATACCCTACATGCAGGCATCATTCCCTACACGCAGGCATCATTCCGTACA
TGCAGGCCTCATTCCCTACACGCAGGCATCATTGTCTACATGCAAGCATC
ATTCCATAAGTATAGGCATCATTCTGTACACGTAGGCATCATTGCTTACA
TGCAAGCATCATTCCATACACATAGGCATCATTCCGTACATGCAGGCATC
ATTCCCTACATGCAGGCATCATACCCTACATGCAGGCATCATTCCCTACA
TGCAGGCATTATTCCCTATACGCAGGCATTATTTCCTACAGATAGGCATC
ATTCTCTACACGCAGGTATCATTCCCTACACGCAGGTATCATTCCCTACA
CATAGGCATCATTCCCTACACGCAGGCATCATTCCCTGCATGCAGGCATC
ATTCTGTACATGCAGGCATCATTCCCTACATGCAAGCATCATTCCATACA
TATAGGCATCATTCTGTACATGTAGGCATCATTGCTTACCTGCAAGCATC
ATTCCATACACATAGGCATCATTCCGTACACGCAGGCATCATTCCCTACA
CGCAGGCATCATTCCCTACACGCAGGCATCATTCCCTGCATGCAGGCATC
ATTCCCTACATGCAAGCATCATTCCATACAT
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3228+819_3228+1498
others(3): Show 
c.3228+819_3228+1498del
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578965
chr22:43578966 A
A
 G
G
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1498T>C
c.3228+1498T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578966
chr22:43578967 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1497A>G
c.3228+1497A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578967
chr22:43578977 T
T
 A
A
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1487A>T
c.3228+1487A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578977
chr22:43578980 G
G
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1484C>G
c.3228+1484C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578980
chr22:43578985 C
C
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3228+1479G>A
c.3228+1479G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43578985
chr22:43579000 G
G
 C
C
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 211 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3228+1464C>G
c.3228+1464C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579000
chr22:43579045 C
C
 T
T
 1 a0004c0005t0001g0022
a0004c0005t0001g0022
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.3228+1419G>A
c.3228+1419G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579045
chr22:43579086 G
G
 A
A
 19 a0001c0001t0001g0153
a0006c0006t0001g0163
a0006c0006t0001g0257
others(16): Show 
a0001c0001t0001g0153
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0014c0017t0001g0282
a0014c0017t0001g0283
a0032c0042t0001g0275
 19 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(16): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
NA18522.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3228+1378C>T
c.3228+1378C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579086
chr22:43579092 A
A
 G
G
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3228+1372T>C
c.3228+1372T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579092
chr22:43579136 T
T
 C
C
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3228+1328A>G
c.3228+1328A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579136
chr22:43579159 C
C
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3228+1305G>A
c.3228+1305G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579159
chr22:43579199 C
C
 T
T
 1 a0007c0014t0002g0018
a0007c0014t0002g0018
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.3228+1265G>A
c.3228+1265G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579199
chr22:43579385 C
C
 CGCAGGCA
others(13): Show 
CGCAGGCATCATTCCCTGCAT
 24 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(21): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
a0031c0022t0001g0237
 24 HG01175.hp2
HG02055.hp1
HG02293.hp2
others(21): Show 
HG01175.hp2
HG02055.hp1
HG02293.hp2
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3228+1059_3228+107
others(24): Show 
c.3228+1059_3228+1078dupATGCAGGGAATGATGCCTGC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579385
chr22:43579425 T
T
 C
C
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3228+1039A>G
c.3228+1039A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579425
chr22:43579539 C
C
 T
T
 1 a0006c0006t0001g0163
a0006c0006t0001g0163
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3228+925G>A
c.3228+925G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579539
chr22:43579540 GTACACGC
others(13): Show 
GTACACGCAGGCATCATTCCC
 G
G
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.3228+904_3228+923d
others(22): Show 
c.3228+904_3228+923delGGGAATGATGCCTGCGTGTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579540
chr22:43579560 C
C
 G
G
 1 a0001c0001t0001g0285
a0001c0001t0001g0285
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.3228+904G>C
c.3228+904G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579560
chr22:43579660 G
G
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3228+804C>T
c.3228+804C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579660
chr22:43579803 C
C
 A
A
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3228+661G>T
c.3228+661G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579803
chr22:43579838 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3228+626G>A
c.3228+626G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579838
chr22:43579899 C
C
 T
T
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3228+565G>A
c.3228+565G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579899
chr22:43579906 G
G
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3228+558C>T
c.3228+558C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43579906
chr22:43580422 C
C
 T
T
 1 a0001c0001t0001g0239
a0001c0001t0001g0239
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.3228+42G>A
c.3228+42G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 25/31 chr22 43580422
chr22:43580704 A
A
 T
T
 2 a0005c0004t0001g0107
a0005c0004t0001g0127
a0005c0004t0001g0107
a0005c0004t0001g0127
 2 HG03491.hp1
HG03669.hp2
HG03491.hp1
HG03669.hp2
 intron_variant MODIFIER c.3033-45T>A
c.3033-45T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43580704
chr22:43580795 G
G
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3033-136C>T
c.3033-136C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43580795
chr22:43580896 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3033-237C>T
c.3033-237C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43580896
chr22:43580913 C
C
 G
G
 2 a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0204
a0001c0001t0001g0205
 2 NA18999.hp1
NA19084.hp1
NA18999.hp1
NA19084.hp1
 intron_variant MODIFIER c.3033-254G>C
c.3033-254G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43580913
chr22:43580963 G
G
 A
A
 2 a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0271
a0006c0006t0001g0272
 2 HG02257.hp2
HG03098.hp1
HG02257.hp2
HG03098.hp1
 intron_variant MODIFIER c.3033-304C>T
c.3033-304C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43580963
chr22:43580971 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.3033-312A>G
c.3033-312A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43580971
chr22:43581405 C
C
 CAAGG
CAAGG
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 45 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3033-750_3033-747d
others(6): Show 
c.3033-750_3033-747dupCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43581405
chr22:43581456 C
C
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3033-797G>T
c.3033-797G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43581456
chr22:43581803 G
G
 A
A
 1 a0005c0004t0001g0109
a0005c0004t0001g0109
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.3033-1144C>T
c.3033-1144C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43581803
chr22:43581805 C
C
 T
T
 15 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(12): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
 15 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(12): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.3033-1146G>A
c.3033-1146G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43581805
chr22:43581864 C
C
 T
T
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.3033-1205G>A
c.3033-1205G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43581864
chr22:43581876 C
C
 A
A
 1 a0002c0002t0001g0143
a0002c0002t0001g0143
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.3033-1217G>T
c.3033-1217G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43581876
chr22:43581910 A
A
 T
T
 2 a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0245
a0002c0002t0001g0246
 2 HG02615.hp1
HG03516.hp2
HG02615.hp1
HG03516.hp2
 intron_variant MODIFIER c.3033-1251T>A
c.3033-1251T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43581910
chr22:43582006 T
T
 C
C
 2 a0006c0006t0001g0279
a0006c0006t0001g0280
a0006c0006t0001g0279
a0006c0006t0001g0280
 2 HG02004.hp1
HG02293.hp1
HG02004.hp1
HG02293.hp1
 intron_variant MODIFIER c.3033-1347A>G
c.3033-1347A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582006
chr22:43582013 G
G
 A
A
 1 a0005c0004t0001g0105
a0005c0004t0001g0105
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.3033-1354C>T
c.3033-1354C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582013
chr22:43582275 C
C
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3033-1616G>T
c.3033-1616G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582275
chr22:43582341 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3033-1682A>G
c.3033-1682A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582341
chr22:43582341 T
T
 TAC
TAC
 135 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
others(132): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0180
a0004c0012t0001g0019
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
 135 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(132): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3033-1684_3033-168
others(6): Show 
c.3033-1684_3033-1683dupGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582341
chr22:43582341 T
T
 TACAC
TACAC
 4 a0001c0001t0001g0153
a0003c0003t0001g0207
a0003c0003t0001g0209
others(1): Show 
a0001c0001t0001g0153
a0003c0003t0001g0207
a0003c0003t0001g0209
a0006c0006t0001g0271
 4 HG03098.hp1
NA18522.hp1
NA18944.hp1
others(1): Show 
HG03098.hp1
NA18522.hp1
NA18944.hp1
NA19005.hp2
 intron_variant MODIFIER c.3033-1686_3033-168
others(8): Show 
c.3033-1686_3033-1683dupGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582341
chr22:43582341 T
T
 TACACAC
TACACAC
 14 a0006c0006t0001g0163
a0006c0006t0001g0267
a0006c0006t0001g0268
others(11): Show 
a0006c0006t0001g0163
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0014c0017t0001g0282
a0014c0017t0001g0283
a0032c0042t0001g0275
 14 HG01243.hp2
HG01346.hp1
HG01515.hp2
others(11): Show 
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02970.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3033-1688_3033-168
others(10): Show 
c.3033-1688_3033-1683dupGTGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582341
chr22:43582341 T
T
 TACACACA
others(1): Show 
TACACACAC
 3 a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0276
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0276
 3 HG00323.hp2
HG02300.hp1
HG02922.hp1
HG00323.hp2
HG02300.hp1
HG02922.hp1
 intron_variant MODIFIER c.3033-1690_3033-168
others(12): Show 
c.3033-1690_3033-1683dupGTGTGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582341
chr22:43582341 TAC
TAC
 T
T
 6 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(3): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0009c0010t0001g0148
 6 HG01496.hp1
HG02630.hp2
HG02723.hp1
others(3): Show 
HG01496.hp1
HG02630.hp2
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.3033-1684_3033-168
others(6): Show 
c.3033-1684_3033-1683delGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582341
chr22:43582341 TACAC
TACAC
 T
T
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
 10 HG01243.hp1
HG02109.hp1
HG02572.hp1
others(7): Show 
HG01243.hp1
HG02109.hp1
HG02572.hp1
HG02895.hp1
HG02897.hp2
HG03139.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.3033-1686_3033-168
others(8): Show 
c.3033-1686_3033-1683delGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582341
chr22:43582555 G
G
 A
A
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.3033-1896C>T
c.3033-1896C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582555
chr22:43582761 A
A
 G
G
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3033-2102T>C
c.3033-2102T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582761
chr22:43582999 C
C
 T
T
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.3033-2340G>A
c.3033-2340G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43582999
chr22:43583029 C
C
 T
T
 1 a0002c0002t0001g0120
a0002c0002t0001g0120
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.3033-2370G>A
c.3033-2370G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583029
chr22:43583083 ACT
ACT
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3033-2426_3033-242
others(6): Show 
c.3033-2426_3033-2425delAG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583083
chr22:43583104 T
T
 C
C
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.3033-2445A>G
c.3033-2445A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583104
chr22:43583308 C
C
 G
G
 3 a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
 3 HG02109.hp1
HG02572.hp1
HG03139.hp2
HG02109.hp1
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.3033-2649G>C
c.3033-2649G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583308
chr22:43583401 C
C
 T
T
 1 a0004c0005t0001g0247
a0004c0005t0001g0247
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.3033-2742G>A
c.3033-2742G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583401
chr22:43583612 A
A
 AG
AG
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3033-2954dupC
c.3033-2954dupC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583612
chr22:43583854 C
C
 T
T
 15 a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0247
others(12): Show 
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0016c0026t0001g0152
 15 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(12): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG01069.hp1
HG02135.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18999.hp2
NA19000.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
 intron_variant MODIFIER c.3033-3195G>A
c.3033-3195G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583854
chr22:43583862 A
A
 AT
AT
 63 a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
others(60): Show 
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0032c0042t0001g0275
 63 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(60): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3033-3204dupA
c.3033-3204dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583862
chr22:43583862 AT
AT
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3033-3204delA
c.3033-3204delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583862
chr22:43583870 A
A
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3033-3211T>C
c.3033-3211T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583870
chr22:43583938 T
T
 A
A
 1 a0005c0004t0001g0132
a0005c0004t0001g0132
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.3033-3279A>T
c.3033-3279A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43583938
chr22:43584346 T
T
 G
G
 2 a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0094
a0004c0012t0001g0095
 2 HG03834.hp2
HG03942.hp1
HG03834.hp2
HG03942.hp1
 intron_variant MODIFIER c.3033-3687A>C
c.3033-3687A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43584346
chr22:43584381 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3033-3722A>G
c.3033-3722A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43584381
chr22:43584439 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3033-3780G>T
c.3033-3780G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43584439
chr22:43584441 C
C
 T
T
 2 a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0131
a0005c0004t0001g0132
 2 HG02040.hp2
NA18961.hp2
HG02040.hp2
NA18961.hp2
 intron_variant MODIFIER c.3033-3782G>A
c.3033-3782G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43584441
chr22:43584648 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3033-3989G>A
c.3033-3989G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43584648
chr22:43584736 A
A
 C
C
 46 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(43): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
a0031c0022t0001g0237
 46 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(43): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04228.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19007.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3033-4077T>G
c.3033-4077T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43584736
chr22:43584971 T
T
 A
A
 2 a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0094
a0004c0012t0001g0095
 2 HG03834.hp2
HG03942.hp1
HG03834.hp2
HG03942.hp1
 intron_variant MODIFIER c.3033-4312A>T
c.3033-4312A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43584971
chr22:43585272 G
G
 T
T
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.3033-4613C>A
c.3033-4613C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43585272
chr22:43585317 C
C
 T
T
 1 a0004c0012t0001g0097
a0004c0012t0001g0097
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.3033-4658G>A
c.3033-4658G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43585317
chr22:43585452 A
A
 G
G
 1 a0003c0003t0001g0186
a0003c0003t0001g0186
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.3032+4622T>C
c.3032+4622T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43585452
chr22:43585666 C
C
 G
G
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3032+4408G>C
c.3032+4408G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43585666
chr22:43585873 C
C
 A
A
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 211 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+4201G>T
c.3032+4201G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43585873
chr22:43586032 A
A
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3032+4042T>G
c.3032+4042T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586032
chr22:43586181 G
G
 A
A
 1 a0003c0003t0001g0218
a0003c0003t0001g0218
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.3032+3893C>T
c.3032+3893C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586181
chr22:43586336 A
A
 G
G
 41 a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
others(38): Show 
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
 41 HG00140.hp2
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00140.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+3738T>C
c.3032+3738T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586336
chr22:43586340 A
A
 AT
AT
 13 a0001c0001t0001g0027
a0001c0001t0001g0049
a0004c0005t0001g0174
others(10): Show 
a0001c0001t0001g0027
a0001c0001t0001g0049
a0004c0005t0001g0174
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0012t0001g0019
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0109
a0005c0020t0001g0161
a0009c0010t0001g0148
a0009c0010t0001g0151
a0015c0024t0001g0128
 13 HG00735.hp2
HG01069.hp2
HG02083.hp1
others(10): Show 
HG00735.hp2
HG01069.hp2
HG02083.hp1
HG02257.hp1
HG02630.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18944.hp2
NA18960.hp1
NA18963.hp2
NA19030.hp1
NA19060.hp1
 intron_variant MODIFIER c.3032+3733dupA
c.3032+3733dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATT
ATT
 66 a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
others(63): Show 
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0029c0031t0002g0012
 66 HG00280.hp2
HG00558.hp2
HG00597.hp2
others(63): Show 
HG00280.hp2
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG00735.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02109.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02886.hp1
HG02965.hp1
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3032+3732_3032+373
others(6): Show 
c.3032+3732_3032+3733dupAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTT
ATTT
 15 a0001c0001t0001g0025
a0001c0001t0001g0040
a0001c0001t0001g0043
others(12): Show 
a0001c0001t0001g0025
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0066
a0001c0001t0001g0080
a0001c0001t0001g0198
a0001c0001t0001g0258
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0037
a0017c0025t0002g0011
 15 HG00423.hp2
HG00621.hp1
HG00642.hp1
others(12): Show 
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG01261.hp1
HG02055.hp2
HG02083.hp2
HG02145.hp2
HG02572.hp2
HG02698.hp2
HG04115.hp1
NA18942.hp1
NA19000.hp2
NA19004.hp2
NA19010.hp2
NA19057.hp1
 intron_variant MODIFIER c.3032+3731_3032+373
others(7): Show 
c.3032+3731_3032+3733dupAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
ATTTTTTT
 6 a0006c0006t0001g0267
a0006c0006t0001g0268
a0007c0014t0002g0017
others(3): Show 
a0006c0006t0001g0267
a0006c0006t0001g0268
a0007c0014t0002g0017
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 6 HG01346.hp1
HG02572.hp1
HG03041.hp2
others(3): Show 
HG01346.hp1
HG02572.hp1
HG03041.hp2
HG03130.hp2
HG03579.hp1
NA20805.hp2
 intron_variant MODIFIER c.3032+3727_3032+373
others(11): Show 
c.3032+3727_3032+3733dupAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(1): Show 
ATTTTTTTT
 10 a0006c0006t0001g0163
a0006c0006t0001g0265
a0006c0006t0001g0269
others(7): Show 
a0006c0006t0001g0163
a0006c0006t0001g0265
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0018
 10 HG00323.hp2
HG01243.hp2
HG02004.hp1
others(7): Show 
HG00323.hp2
HG01243.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp1
NA18954.hp1
 intron_variant MODIFIER c.3032+3726_3032+373
others(12): Show 
c.3032+3726_3032+3733dupAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 14 a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0139
others(11): Show 
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0145
a0002c0002t0001g0147
a0002c0002t0004g0288
a0006c0006t0001g0276
a0006c0006t0001g0277
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0114
 14 HG00099.hp1
HG01099.hp1
HG01169.hp1
others(11): Show 
HG00099.hp1
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG02300.hp1
HG02602.hp2
HG03041.hp1
HG03209.hp2
NA19240.hp1
 intron_variant MODIFIER c.3032+3724_3032+373
others(14): Show 
c.3032+3724_3032+3733dupAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 6 a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0144
others(3): Show 
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0144
a0002c0002t0001g0146
a0002c0002t0004g0289
a0010c0011t0001g0113
 6 HG00642.hp2
HG01258.hp1
HG01884.hp1
others(3): Show 
HG00642.hp2
HG01258.hp1
HG01884.hp1
HG02896.hp2
HG03130.hp1
NA19007.hp1
 intron_variant MODIFIER c.3032+3723_3032+373
others(15): Show 
c.3032+3723_3032+3733dupAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 3 a0002c0002t0001g0117
a0002c0002t0001g0133
a0002c0037t0001g0119
a0002c0002t0001g0117
a0002c0002t0001g0133
a0002c0037t0001g0119
 3 HG02559.hp1
HG02886.hp2
HG03540.hp2
HG02559.hp1
HG02886.hp2
HG03540.hp2
 intron_variant MODIFIER c.3032+3722_3032+373
others(16): Show 
c.3032+3722_3032+3733dupAAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(7): Show 
ATTTTTTTTTTTTTT
 3 a0002c0002t0001g0129
a0014c0017t0001g0282
a0014c0017t0001g0283
a0002c0002t0001g0129
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG02809.hp1
HG03491.hp2
HG03492.hp1
HG02809.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3032+3720_3032+373
others(18): Show 
c.3032+3720_3032+3733dupAAAAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(8): Show 
ATTTTTTTTTTTTTTT
 1 a0007c0007t0001g0160
a0007c0007t0001g0160
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.3032+3719_3032+373
others(19): Show 
c.3032+3719_3032+3733dupAAAAAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(10): Show 
ATTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3032+3717_3032+373
others(21): Show 
c.3032+3717_3032+3733dupAAAAAAAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(13): Show 
ATTTTTTTTTTTTTTTTTTTT
 2 a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0157
a0007c0007t0001g0158
 2 HG02723.hp1
HG03453.hp2
HG02723.hp1
HG03453.hp2
 intron_variant MODIFIER c.3032+3714_3032+373
others(24): Show 
c.3032+3714_3032+3733dupAAAAAAAAAAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(17): Show 
ATTTTTTTTTTTTTTTTTTTTTTTT
 1 a0007c0007t0002g0004
a0007c0007t0002g0004
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3032+3710_3032+373
others(28): Show 
c.3032+3710_3032+3733dupAAAAAAAAAAAAAAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(19): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0007c0007t0002g0005
a0007c0007t0002g0005
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.3032+3708_3032+373
others(30): Show 
c.3032+3708_3032+3733dupAAAAAAAAAAAAAAAAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(20): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0154
a0007c0007t0001g0155
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 intron_variant MODIFIER c.3032+3733_3032+373
others(31): Show 
c.3032+3733_3032+3734insAAAAAAAAAAAAAAAAAAAAAAAAAA
A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(23): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0007c0007t0001g0156
a0007c0007t0001g0156
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.3032+3733_3032+373
others(34): Show 
c.3032+3733_3032+3734insAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 A
A
 ATTTTTTT
others(26): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0007c0007t0001g0159
a0007c0007t0001g0159
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.3032+3733_3032+373
others(37): Show 
c.3032+3733_3032+3734insAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 AT
AT
 A
A
 23 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
others(20): Show 
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0038t0001g0260
a0004c0005t0001g0022
a0005c0004t0001g0107
a0005c0004t0001g0234
a0009c0010t0001g0149
a0030c0032t0001g0126
 23 HG01934.hp1
HG02145.hp1
HG02280.hp1
others(20): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp2
NA18906.hp2
NA18941.hp1
NA20805.hp1
 intron_variant MODIFIER c.3032+3733delA
c.3032+3733delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 ATTTTT
ATTTTT
 A
A
 6 a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0035t0001g0235
others(3): Show 
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0035t0001g0235
a0003c0003t0001g0072
a0023c0034t0001g0082
a0028c0041t0001g0189
 6 HG01175.hp1
HG01433.hp1
HG01943.hp2
others(3): Show 
HG01175.hp1
HG01433.hp1
HG01943.hp2
HG03195.hp2
NA18951.hp2
NA19240.hp2
 intron_variant MODIFIER c.3032+3729_3032+373
others(9): Show 
c.3032+3729_3032+3733delAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586340 ATTTTTT
ATTTTTT
 A
A
 54 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(51): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0027t0001g0075
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0031c0022t0001g0237
 54 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(51): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+3728_3032+373
others(10): Show 
c.3032+3728_3032+3733delAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586340
chr22:43586538 T
T
 C
C
 209 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(206): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 209 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(206): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+3536A>G
c.3032+3536A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586538
chr22:43586596 CA
CA
 C
C
 3 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
 3 NA18947.hp1
NA18960.hp1
NA18965.hp1
NA18947.hp1
NA18960.hp1
NA18965.hp1
 intron_variant MODIFIER c.3032+3477delT
c.3032+3477delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586596
chr22:43586599 G
G
 A
A
 2 a0003c0003t0001g0218
a0003c0003t0001g0227
a0003c0003t0001g0218
a0003c0003t0001g0227
 2 HG02155.hp2
NA19009.hp2
HG02155.hp2
NA19009.hp2
 intron_variant MODIFIER c.3032+3475C>T
c.3032+3475C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586599
chr22:43586648 C
C
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3032+3426G>C
c.3032+3426G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586648
chr22:43586666 T
T
 C
C
 60 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(57): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0032c0042t0001g0275
 60 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(57): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+3408A>G
c.3032+3408A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586666
chr22:43586737 G
G
 T
T
 29 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(26): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
 29 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(26): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3032+3337C>A
c.3032+3337C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586737
chr22:43586780 C
C
 A
A
 4 a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
others(1): Show 
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
 4 HG02040.hp2
NA18957.hp2
NA18961.hp2
others(1): Show 
HG02040.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
 intron_variant MODIFIER c.3032+3294G>T
c.3032+3294G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586780
chr22:43586833 C
C
 T
T
 1 a0012c0016t0006g0266
a0012c0016t0006g0266
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.3032+3241G>A
c.3032+3241G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586833
chr22:43586926 G
G
 A
A
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.3032+3148C>T
c.3032+3148C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586926
chr22:43586958 T
T
 C
C
 1 a0004c0005t0001g0162
a0004c0005t0001g0162
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.3032+3116A>G
c.3032+3116A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43586958
chr22:43587088 T
T
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.3032+2986A>T
c.3032+2986A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587088
chr22:43587324 A
A
 T
T
 3 a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG03491.hp2
HG03492.hp1
NA18522.hp1
HG03491.hp2
HG03492.hp1
NA18522.hp1
 intron_variant MODIFIER c.3032+2750T>A
c.3032+2750T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587324
chr22:43587346 T
T
 C
C
 46 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(43): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
a0031c0022t0001g0237
 46 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(43): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04228.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19007.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3032+2728A>G
c.3032+2728A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587346
chr22:43587394 A
A
 T
T
 14 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(11): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
 14 HG01884.hp1
HG01934.hp1
HG02145.hp1
others(11): Show 
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03540.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.3032+2680T>A
c.3032+2680T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587394
chr22:43587592 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3032+2482C>T
c.3032+2482C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587592
chr22:43587617 CTT
CTT
 C
C
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.3032+2455_3032+245
others(6): Show 
c.3032+2455_3032+2456delAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587617
chr22:43587756 A
A
 C
C
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3032+2318T>G
c.3032+2318T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587756
chr22:43587882 G
G
 A
A
 209 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(206): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 209 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(206): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+2192C>T
c.3032+2192C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587882
chr22:43587972 A
A
 AAAATTTT
others(11): Show 
AAAATTTTTAGTATAACTC
 1 a0005c0004t0001g0131
a0005c0004t0001g0131
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.3032+2084_3032+210
others(22): Show 
c.3032+2084_3032+2101dupGAGTTATACTAAAAATTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43587972
chr22:43588166 T
T
 C
C
 1 a0003c0003t0001g0183
a0003c0003t0001g0183
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.3032+1908A>G
c.3032+1908A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588166
chr22:43588203 G
G
 A
A
 91 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(88): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
a0030c0032t0001g0126
 91 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(88): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3032+1871C>T
c.3032+1871C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588203
chr22:43588508 A
A
 G
G
 1 a0006c0006t0001g0269
a0006c0006t0001g0269
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.3032+1566T>C
c.3032+1566T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588508
chr22:43588620 G
G
 T
T
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.3032+1454C>A
c.3032+1454C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588620
chr22:43588697 C
C
 T
T
 2 a0013c0018t0001g0090
a0013c0018t0001g0092
a0013c0018t0001g0090
a0013c0018t0001g0092
 2 HG02630.hp1
NA20129.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.3032+1377G>A
c.3032+1377G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588697
chr22:43588922 C
C
 T
T
 1 a0001c0013t0001g0031
a0001c0013t0001g0031
 1 HG01258.hp2
HG01258.hp2
 intron_variant MODIFIER c.3032+1152G>A
c.3032+1152G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588922
chr22:43588929 A
A
 G
G
 2 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0267
a0006c0006t0001g0268
 2 HG01346.hp1
NA20805.hp2
HG01346.hp1
NA20805.hp2
 intron_variant MODIFIER c.3032+1145T>C
c.3032+1145T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588929
chr22:43588951 G
G
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3032+1123C>T
c.3032+1123C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43588951
chr22:43589005 T
T
 C
C
 189 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(186): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
 189 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(186): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+1069A>G
c.3032+1069A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589005
chr22:43589138 C
C
 T
T
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3032+936G>A
c.3032+936G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589138
chr22:43589183 G
G
 A
A
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.3032+891C>T
c.3032+891C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589183
chr22:43589280 C
C
 CA
CA
 7 a0004c0012t0001g0094
a0005c0004t0001g0110
a0005c0004t0001g0127
others(4): Show 
a0004c0012t0001g0094
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0132
a0005c0004t0001g0135
a0015c0024t0001g0128
a0026c0028t0003g0003
 7 HG00323.hp1
HG02040.hp2
HG02738.hp1
others(4): Show 
HG00323.hp1
HG02040.hp2
HG02738.hp1
HG03669.hp2
HG03834.hp2
HG04115.hp2
NA18947.hp2
 intron_variant MODIFIER c.3032+793dupT
c.3032+793dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CA
CA
 C
C
 12 a0001c0013t0001g0187
a0001c0013t0001g0188
a0003c0003t0001g0182
others(9): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0003c0003t0001g0182
a0003c0003t0001g0215
a0003c0003t0001g0218
a0004c0005t0001g0165
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0170
a0005c0004t0001g0108
a0012c0016t0001g0281
 12 HG00280.hp1
HG00558.hp1
HG00639.hp2
others(9): Show 
HG00280.hp1
HG00558.hp1
HG00639.hp2
HG02135.hp2
HG02155.hp2
HG02451.hp1
HG03669.hp1
NA18951.hp1
NA18979.hp1
NA19000.hp1
NA19064.hp2
NA19079.hp2
 intron_variant MODIFIER c.3032+793delT
c.3032+793delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAA
CAA
 C
C
 25 a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0002g0007
others(22): Show 
a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0002g0007
a0002c0002t0001g0123
a0003c0003t0001g0023
a0003c0003t0001g0183
a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0216
a0003c0003t0001g0225
a0003c0003t0001g0230
a0004c0005t0001g0021
a0004c0005t0001g0247
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0171
a0004c0009t0001g0176
a0007c0014t0002g0015
a0009c0010t0001g0151
a0018c0044t0001g0221
a0019c0043t0001g0224
 25 HG00438.hp1
HG00621.hp2
HG01257.hp1
others(22): Show 
HG00438.hp1
HG00621.hp2
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02135.hp1
HG02976.hp1
HG03139.hp1
HG03654.hp2
HG04228.hp1
NA18943.hp2
NA18945.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp1
NA18972.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
 intron_variant MODIFIER c.3032+792_3032+793d
others(4): Show 
c.3032+792_3032+793delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAA
CAAA
 C
C
 25 a0001c0001t0002g0008
a0001c0001t0002g0013
a0002c0002t0001g0141
others(22): Show 
a0001c0001t0002g0008
a0001c0001t0002g0013
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0072
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0209
a0003c0003t0001g0214
a0003c0003t0001g0217
a0003c0003t0001g0222
a0003c0003t0001g0228
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0016
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0006g0266
a0017c0025t0002g0011
a0029c0031t0002g0012
 25 HG00140.hp2
HG00438.hp2
HG01074.hp1
others(22): Show 
HG00140.hp2
HG00438.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01884.hp2
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG03942.hp2
NA18522.hp2
NA18950.hp2
NA18974.hp2
NA19004.hp1
NA19005.hp2
NA19060.hp2
NA19080.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+791_3032+793d
others(5): Show 
c.3032+791_3032+793delTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAA
CAAAA
 C
C
 15 a0001c0001t0001g0083
a0001c0001t0001g0256
a0001c0023t0001g0254
others(12): Show 
a0001c0001t0001g0083
a0001c0001t0001g0256
a0001c0023t0001g0254
a0001c0027t0001g0075
a0003c0003t0001g0229
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0017
a0007c0014t0002g0018
 15 HG01496.hp1
HG02572.hp1
HG02622.hp1
others(12): Show 
HG01496.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp1
HG02895.hp1
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18961.hp1
 intron_variant MODIFIER c.3032+790_3032+793d
others(6): Show 
c.3032+790_3032+793delTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAA
CAAAAA
 C
C
 10 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
others(7): Show 
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0002g0010
a0001c0001t0003g0001
a0001c0035t0001g0235
a0007c0007t0001g0154
a0022c0039t0001g0091
a0030c0032t0001g0126
a0031c0022t0001g0237
 10 HG01243.hp1
HG02717.hp1
HG02717.hp2
others(7): Show 
HG01243.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02897.hp2
HG03209.hp1
NA18951.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.3032+789_3032+793d
others(7): Show 
c.3032+789_3032+793delTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 14 a0001c0001t0001g0153
a0002c0002t0001g0120
a0002c0002t0001g0241
others(11): Show 
a0001c0001t0001g0153
a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0262
a0002c0002t0001g0264
a0002c0038t0001g0260
a0003c0003t0001g0226
a0021c0036t0001g0138
 14 HG02615.hp1
HG02622.hp2
HG02735.hp2
others(11): Show 
HG02615.hp1
HG02622.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.3032+786_3032+793d
others(10): Show 
c.3032+786_3032+793delTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 4 a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0019t0001g0125
others(1): Show 
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0019t0001g0125
a0016c0026t0001g0152
 4 HG01069.hp1
HG01934.hp1
HG02145.hp1
others(1): Show 
HG01069.hp1
HG01934.hp1
HG02145.hp1
HG02896.hp2
 intron_variant MODIFIER c.3032+784_3032+793d
others(12): Show 
c.3032+784_3032+793delTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 24 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(21): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0037t0001g0119
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 24 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(21): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01515.hp1
HG01516.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3032+783_3032+793d
others(13): Show 
c.3032+783_3032+793delTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 4 a0002c0002t0001g0121
a0010c0011t0001g0096
a0014c0017t0001g0282
others(1): Show 
a0002c0002t0001g0121
a0010c0011t0001g0096
a0014c0017t0001g0282
a0014c0017t0001g0283
 4 HG01496.hp2
HG01884.hp1
HG03491.hp2
others(1): Show 
HG01496.hp2
HG01884.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3032+782_3032+793d
others(14): Show 
c.3032+782_3032+793delTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 C
C
 17 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(14): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0023c0034t0001g0082
a0032c0042t0001g0275
 17 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(14): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03195.hp2
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3032+776_3032+793d
others(20): Show 
c.3032+776_3032+793delTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 C
C
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.3032+775_3032+793d
others(21): Show 
c.3032+775_3032+793delTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 C
C
 13 a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
others(10): Show 
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0012t0001g0097
a0005c0020t0001g0161
a0007c0014t0005g0014
a0020c0048t0001g0177
 13 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(10): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG02074.hp1
HG02683.hp2
HG04199.hp2
NA18941.hp1
NA18983.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.3032+774_3032+793d
others(22): Show 
c.3032+774_3032+793delTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(18): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAA
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.3032+769_3032+793d
others(27): Show 
c.3032+769_3032+793delTTTTTTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589280 CAAAAAAA
others(43): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTACA
G
 C
C
 76 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(73): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
 76 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(73): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.3032+744_3032+793d
others(52): Show 
c.3032+744_3032+793delCTGTACTTCTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589280
chr22:43589320 A
A
 G
G
 42 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(39): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
 42 HG00140.hp2
HG00280.hp1
HG00438.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3032+754T>C
c.3032+754T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589320
chr22:43589321 A
A
 T
T
 1 a0005c0004t0001g0131
a0005c0004t0001g0131
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.3032+753T>A
c.3032+753T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589321
chr22:43589322 G
G
 A
A
 1 a0005c0004t0001g0131
a0005c0004t0001g0131
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.3032+752C>T
c.3032+752C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589322
chr22:43589373 T
T
 C
C
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.3032+701A>G
c.3032+701A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589373
chr22:43589454 G
G
 A
A
 30 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(27): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3032+620C>T
c.3032+620C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589454
chr22:43589474 G
G
 A
A
 12 a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
others(9): Show 
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0012t0001g0097
a0005c0020t0001g0161
a0020c0048t0001g0177
 12 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(9): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG02074.hp1
HG02683.hp2
HG04199.hp2
NA18941.hp1
NA18983.hp1
NA19007.hp2
NA19010.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.3032+600C>T
c.3032+600C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589474
chr22:43589660 C
C
 T
T
 2 a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0121
a0002c0002t0001g0129
 2 HG01884.hp1
HG02809.hp1
HG01884.hp1
HG02809.hp1
 intron_variant MODIFIER c.3032+414G>A
c.3032+414G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589660
chr22:43589696 G
G
 A
A
 30 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(27): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.3032+378C>T
c.3032+378C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589696
chr22:43589728 C
C
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.3032+346G>A
c.3032+346G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589728
chr22:43589820 A
A
 C
C
 1 a0001c0013t0001g0208
a0001c0013t0001g0208
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.3032+254T>G
c.3032+254T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589820
chr22:43589847 A
A
 C
C
 1 a0018c0044t0001g0221
a0018c0044t0001g0221
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.3032+227T>G
c.3032+227T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589847
chr22:43589984 G
G
 A
A
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.3032+90C>T
c.3032+90C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43589984
chr22:43590027 T
T
 G
G
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.3032+47A>C
c.3032+47A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43590027
chr22:43590049 CAT
CAT
 C
C
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.3032+23_3032+24del
others(2): Show 
c.3032+23_3032+24delAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 24/31 chr22 43590049
chr22:43590254 T
T
 C
C
 44 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(41): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 44 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-25A>G
c.2877-25A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590254
chr22:43590261 A
A
 G
G
 24 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(21): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
a0031c0022t0001g0237
 24 HG01175.hp2
HG02055.hp1
HG02293.hp2
others(21): Show 
HG01175.hp2
HG02055.hp1
HG02293.hp2
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2877-32T>C
c.2877-32T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590261
chr22:43590329 G
G
 T
T
 1 a0006c0006t0001g0163
a0006c0006t0001g0163
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2877-100C>A
c.2877-100C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590329
chr22:43590408 T
T
 TAA
TAA
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-180_2877-179i
others(4): Show 
c.2877-180_2877-179insTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590408
chr22:43590635 G
G
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-406C>T
c.2877-406C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590635
chr22:43590698 C
C
 T
T
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.2877-469G>A
c.2877-469G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590698
chr22:43590742 C
C
 CAA
CAA
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2877-515_2877-514d
others(4): Show 
c.2877-515_2877-514dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590742
chr22:43590742 CA
CA
 C
C
 19 a0001c0001t0001g0047
a0001c0001t0001g0083
a0001c0001t0002g0006
others(16): Show 
a0001c0001t0001g0047
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0118
a0002c0002t0001g0123
a0003c0003t0001g0183
a0005c0004t0001g0131
a0006c0006t0001g0271
a0006c0006t0001g0272
a0010c0011t0001g0096
a0017c0025t0002g0011
a0024c0033t0001g0181
a0029c0031t0002g0012
a0030c0032t0001g0126
 19 HG01496.hp2
HG02055.hp1
HG02257.hp2
others(16): Show 
HG01496.hp2
HG02055.hp1
HG02257.hp2
HG02572.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG06807.hp1
NA18946.hp2
NA18961.hp2
NA19083.hp2
 intron_variant MODIFIER c.2877-514delT
c.2877-514delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590742
chr22:43590761 G
G
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2877-532C>A
c.2877-532C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590761
chr22:43590778 T
T
 G
G
 72 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(69): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 72 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(69): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-549A>C
c.2877-549A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590778
chr22:43590794 C
C
 T
T
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2877-565G>A
c.2877-565G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590794
chr22:43590901 T
T
 C
C
 44 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(41): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 44 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-672A>G
c.2877-672A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590901
chr22:43590936 G
G
 A
A
 10 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(7): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 10 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(7): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
 intron_variant MODIFIER c.2877-707C>T
c.2877-707C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43590936
chr22:43591104 GTTTTTTG
others(1): Show 
GTTTTTTGT
 G
G
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2877-883_2877-876d
others(10): Show 
c.2877-883_2877-876delACAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591104
chr22:43591111 GT
GT
 G
G
 119 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(116): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0005c0004t0001g0108
a0007c0007t0001g0156
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
 119 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(116): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-883delA
c.2877-883delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591111
chr22:43591112 T
T
 G
G
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.2877-883A>C
c.2877-883A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591112
chr22:43591112 TTTTTTTT
others(5): Show 
TTTTTTTTTTTTG
 T
T
 10 a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0182
others(7): Show 
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0209
a0003c0003t0001g0229
a0003c0003t0001g0231
 10 HG02698.hp1
NA18950.hp2
NA18961.hp1
others(7): Show 
HG02698.hp1
NA18950.hp2
NA18961.hp1
NA18974.hp2
NA18979.hp1
NA19005.hp2
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.2877-895_2877-884d
others(14): Show 
c.2877-895_2877-884delCAAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591112
chr22:43591113 T
T
 G
G
 1 a0003c0003t0001g0225
a0003c0003t0001g0225
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.2877-884A>C
c.2877-884A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591113
chr22:43591113 TTTTTTTT
others(4): Show 
TTTTTTTTTTTG
 T
T
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2877-895_2877-885d
others(13): Show 
c.2877-895_2877-885delCAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591113
chr22:43591115 T
T
 G
G
 3 a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG03491.hp2
HG03492.hp1
NA18522.hp1
HG03491.hp2
HG03492.hp1
NA18522.hp1
 intron_variant MODIFIER c.2877-886A>C
c.2877-886A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591115
chr22:43591118 T
T
 G
G
 3 a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0087
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0087
 3 HG01433.hp1
NA18979.hp2
NA19083.hp1
HG01433.hp1
NA18979.hp2
NA19083.hp1
 intron_variant MODIFIER c.2877-889A>C
c.2877-889A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591118
chr22:43591119 T
T
 G
G
 88 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(85): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
 88 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(85): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-890A>C
c.2877-890A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591119
chr22:43591123 T
T
 G
G
 35 a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0256
others(32): Show 
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0256
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0003c0003t0001g0072
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 35 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(32): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02735.hp2
HG03017.hp1
HG03654.hp2
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18951.hp2
NA18972.hp1
NA18979.hp2
NA19004.hp1
NA19009.hp2
NA19057.hp2
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-894A>C
c.2877-894A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591123
chr22:43591124 G
G
 T
T
 36 a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0256
others(33): Show 
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0256
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0003c0003t0001g0072
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 36 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(33): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02735.hp2
HG03017.hp1
HG03654.hp2
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18951.hp2
NA18972.hp1
NA18979.hp2
NA19004.hp1
NA19009.hp2
NA19057.hp2
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-895C>A
c.2877-895C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591124
chr22:43591143 T
T
 A
A
 145 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(142): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0029c0031t0002g0012
a0031c0022t0001g0237
 145 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(142): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.2877-914A>T
c.2877-914A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591143
chr22:43591149 G
G
 A
A
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.2877-920C>T
c.2877-920C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591149
chr22:43591258 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2877-1029G>A
c.2877-1029G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591258
chr22:43591325 T
T
 C
C
 13 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.2877-1096A>G
c.2877-1096A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591325
chr22:43591457 A
A
 T
T
 1 a0003c0003t0001g0284
a0003c0003t0001g0284
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-1228T>A
c.2877-1228T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591457
chr22:43591458 T
T
 TA
TA
 29 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(26): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0116
a0002c0002t0001g0123
a0005c0004t0001g0093
a0005c0004t0001g0108
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0017c0025t0002g0011
a0018c0044t0001g0221
a0021c0036t0001g0138
a0032c0042t0001g0275
 29 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(26): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03453.hp1
HG03486.hp2
HG06807.hp1
NA18954.hp1
NA19081.hp2
NA20805.hp2
 intron_variant MODIFIER c.2877-1230dupT
c.2877-1230dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591458
chr22:43591471 A
A
 G
G
 11 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(8): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
a0030c0032t0001g0126
 11 HG01243.hp1
HG01496.hp1
HG02717.hp1
others(8): Show 
HG01243.hp1
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.2877-1242T>C
c.2877-1242T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591471
chr22:43591507 GT
GT
 G
G
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-1279delA
c.2877-1279delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591507
chr22:43591587 C
C
 T
T
 1 a0012c0016t0001g0274
a0012c0016t0001g0274
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.2877-1358G>A
c.2877-1358G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591587
chr22:43591589 G
G
 T
T
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2877-1360C>A
c.2877-1360C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591589
chr22:43591664 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2877-1435G>A
c.2877-1435G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591664
chr22:43591693 C
C
 T
T
 3 a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
a0001c0001t0001g0153
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG03491.hp2
HG03492.hp1
NA18522.hp1
HG03491.hp2
HG03492.hp1
NA18522.hp1
 intron_variant MODIFIER c.2877-1464G>A
c.2877-1464G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591693
chr22:43591803 T
T
 A
A
 1 a0005c0004t0001g0107
a0005c0004t0001g0107
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.2877-1574A>T
c.2877-1574A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591803
chr22:43591835 T
T
 C
C
 2 a0013c0018t0001g0090
a0013c0018t0001g0092
a0013c0018t0001g0090
a0013c0018t0001g0092
 2 HG02630.hp1
NA20129.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.2877-1606A>G
c.2877-1606A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43591835
chr22:43592116 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2877-1887A>G
c.2877-1887A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592116
chr22:43592362 T
T
 C
C
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2877-2133A>G
c.2877-2133A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592362
chr22:43592402 T
T
 C
C
 1 a0003c0003t0001g0218
a0003c0003t0001g0218
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.2877-2173A>G
c.2877-2173A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592402
chr22:43592615 C
C
 G
G
 1 a0001c0035t0001g0235
a0001c0035t0001g0235
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.2877-2386G>C
c.2877-2386G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592615
chr22:43592647 T
T
 A
A
 1 a0020c0048t0001g0177
a0020c0048t0001g0177
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2877-2418A>T
c.2877-2418A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592647
chr22:43592769 C
C
 G
G
 1 a0004c0005t0001g0088
a0004c0005t0001g0088
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.2877-2540G>C
c.2877-2540G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592769
chr22:43592867 C
C
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2877-2638G>A
c.2877-2638G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592867
chr22:43592975 A
A
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2877-2746T>A
c.2877-2746T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43592975
chr22:43593005 C
C
 A
A
 1 a0003c0003t0008g0287
a0003c0003t0008g0287
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.2877-2776G>T
c.2877-2776G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593005
chr22:43593018 T
T
 G
G
 24 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(21): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
a0031c0022t0001g0237
 24 HG01175.hp2
HG02055.hp1
HG02293.hp2
others(21): Show 
HG01175.hp2
HG02055.hp1
HG02293.hp2
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2877-2789A>C
c.2877-2789A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593018
chr22:43593066 T
T
 TA
TA
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2877-2838dupT
c.2877-2838dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593066
chr22:43593066 T
T
 TAA
TAA
 86 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(83): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0092
a0023c0034t0001g0082
 86 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-2839_2877-283
others(6): Show 
c.2877-2839_2877-2838dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593066
chr22:43593209 G
G
 A
A
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2877-2980C>T
c.2877-2980C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593209
chr22:43593285 G
G
 C
C
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2877-3056C>G
c.2877-3056C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593285
chr22:43593335 T
T
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2877-3106A>C
c.2877-3106A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593335
chr22:43593402 C
C
 T
T
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.2877-3173G>A
c.2877-3173G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593402
chr22:43593564 T
T
 C
C
 44 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(41): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 44 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-3335A>G
c.2877-3335A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593564
chr22:43593565 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2877-3336G>A
c.2877-3336G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593565
chr22:43593673 T
T
 C
C
 15 a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0247
others(12): Show 
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0016c0026t0001g0152
 15 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(12): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG01069.hp1
HG02135.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18999.hp2
NA19000.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
 intron_variant MODIFIER c.2877-3444A>G
c.2877-3444A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593673
chr22:43593938 A
A
 G
G
 1 a0004c0005t0001g0089
a0004c0005t0001g0089
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.2877-3709T>C
c.2877-3709T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593938
chr22:43593982 T
T
 C
C
 1 a0003c0003t0001g0232
a0003c0003t0001g0232
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.2877-3753A>G
c.2877-3753A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43593982
chr22:43594093 G
G
 T
T
 145 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(142): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0029c0031t0002g0012
a0031c0022t0001g0237
 145 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(142): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.2877-3864C>A
c.2877-3864C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594093
chr22:43594190 G
G
 A
A
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0005c0020t0001g0161
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-3961C>T
c.2877-3961C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594190
chr22:43594273 T
T
 C
C
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-4044A>G
c.2877-4044A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594273
chr22:43594275 C
C
 CA
CA
 11 a0001c0001t0002g0007
a0001c0013t0001g0233
a0002c0002t0001g0139
others(8): Show 
a0001c0001t0002g0007
a0001c0013t0001g0233
a0002c0002t0001g0139
a0003c0003t0001g0223
a0004c0005t0001g0252
a0005c0004t0001g0093
a0005c0004t0001g0131
a0006c0006t0001g0265
a0012c0016t0001g0281
a0024c0033t0001g0181
a0027c0030t0009g0290
 11 HG00323.hp2
HG00639.hp2
HG01099.hp1
others(8): Show 
HG00323.hp2
HG00639.hp2
HG01099.hp1
HG02257.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp2
HG03579.hp1
NA18961.hp2
NA19000.hp1
NA19091.hp2
 intron_variant MODIFIER c.2877-4047dupT
c.2877-4047dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594275
chr22:43594275 C
C
 CAA
CAA
 41 a0001c0001t0001g0087
a0001c0013t0001g0187
a0001c0013t0001g0188
others(38): Show 
a0001c0001t0001g0087
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01433.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-4048_2877-404
others(6): Show 
c.2877-4048_2877-4047dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594275
chr22:43594275 CA
CA
 C
C
 48 a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
others(45): Show 
a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0001c0001t0001g0078
a0001c0001t0001g0236
a0001c0001t0001g0258
a0001c0023t0001g0254
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0022
a0006c0006t0001g0267
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
 48 HG00099.hp1
HG00280.hp2
HG00642.hp1
others(45): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01261.hp1
HG01496.hp2
HG01516.hp2
HG01934.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp2
NA18941.hp1
NA18942.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.2877-4047delT
c.2877-4047delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594275
chr22:43594275 CAA
CAA
 C
C
 66 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
others(63): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
 66 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(63): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00735.hp1
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02630.hp1
HG02698.hp2
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-4048_2877-404
others(6): Show 
c.2877-4048_2877-4047delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594275
chr22:43594275 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.2877-4057_2877-404
others(15): Show 
c.2877-4057_2877-4047delTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594275
chr22:43594292 A
A
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.2877-4063T>G
c.2877-4063T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594292
chr22:43594294 A
A
 G
G
 76 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(73): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
 76 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(73): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-4065T>C
c.2877-4065T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594294
chr22:43594304 G
G
 T
T
 10 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
others(7): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0008c0008t0001g0202
 10 HG00639.hp1
HG00735.hp1
HG02145.hp2
others(7): Show 
HG00639.hp1
HG00735.hp1
HG02145.hp2
HG02300.hp2
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.2877-4075C>A
c.2877-4075C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594304
chr22:43594390 T
T
 A
A
 18 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(15): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0013c0018t0001g0090
a0013c0018t0001g0092
a0032c0042t0001g0275
 18 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(15): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2877-4161A>T
c.2877-4161A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594390
chr22:43594647 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2877-4418T>C
c.2877-4418T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594647
chr22:43594923 T
T
 A
A
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.2877-4694A>T
c.2877-4694A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594923
chr22:43594926 A
A
 G
G
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2877-4697T>C
c.2877-4697T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594926
chr22:43594953 T
T
 C
C
 87 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(84): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 87 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(84): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2877-4724A>G
c.2877-4724A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594953
chr22:43594995 C
C
 T
T
 44 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(41): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 44 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2877-4766G>A
c.2877-4766G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43594995
chr22:43595120 C
C
 T
T
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.2877-4891G>A
c.2877-4891G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43595120
chr22:43595283 A
A
 G
G
 44 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
others(41): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 44 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+4786T>C
c.2876+4786T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43595283
chr22:43595441 G
G
 A
A
 208 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(205): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 208 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(205): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+4628C>T
c.2876+4628C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43595441
chr22:43595886 A
A
 G
G
 1 a0005c0004t0001g0103
a0005c0004t0001g0103
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.2876+4183T>C
c.2876+4183T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43595886
chr22:43595946 C
C
 T
T
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 210 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+4123G>A
c.2876+4123G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43595946
chr22:43596172 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2876+3897T>C
c.2876+3897T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43596172
chr22:43596312 G
G
 A
A
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2876+3757C>T
c.2876+3757C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43596312
chr22:43596360 C
C
 T
T
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0123
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2876+3709G>A
c.2876+3709G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43596360
chr22:43596883 G
G
 C
C
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.2876+3186C>G
c.2876+3186C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43596883
chr22:43597096 C
C
 A
A
 3 a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
 3 HG01515.hp2
HG01517.hp2
HG02300.hp1
HG01515.hp2
HG01517.hp2
HG02300.hp1
 intron_variant MODIFIER c.2876+2973G>T
c.2876+2973G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43597096
chr22:43597306 C
C
 G
G
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.2876+2763G>C
c.2876+2763G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43597306
chr22:43597556 T
T
 C
C
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.2876+2513A>G
c.2876+2513A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43597556
chr22:43597727 G
G
 A
A
 208 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(205): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 208 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(205): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+2342C>T
c.2876+2342C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43597727
chr22:43597738 G
G
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2876+2331C>A
c.2876+2331C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43597738
chr22:43597991 C
C
 T
T
 9 a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
others(6): Show 
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
 9 HG00323.hp2
HG01346.hp1
HG01515.hp2
others(6): Show 
HG00323.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2876+2078G>A
c.2876+2078G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43597991
chr22:43597992 G
G
 A
A
 41 a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
others(38): Show 
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
 41 HG00140.hp2
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00140.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+2077C>T
c.2876+2077C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43597992
chr22:43598037 C
C
 T
T
 3 a0005c0004t0001g0127
a0024c0033t0001g0181
a0027c0030t0009g0290
a0005c0004t0001g0127
a0024c0033t0001g0181
a0027c0030t0009g0290
 3 HG03041.hp2
HG03579.hp1
HG03669.hp2
HG03041.hp2
HG03579.hp1
HG03669.hp2
 intron_variant MODIFIER c.2876+2032G>A
c.2876+2032G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598037
chr22:43598189 C
C
 T
T
 30 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(27): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2876+1880G>A
c.2876+1880G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598189
chr22:43598255 C
C
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2876+1814G>A
c.2876+1814G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598255
chr22:43598280 C
C
 T
T
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2876+1789G>A
c.2876+1789G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598280
chr22:43598308 C
C
 A
A
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+1761G>T
c.2876+1761G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598308
chr22:43598310 G
G
 GA
GA
 88 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(85): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0005t0001g0180
a0004c0009t0001g0171
a0004c0012t0001g0095
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0108
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0273
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0014t0002g0015
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0151
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0114
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0022c0039t0001g0091
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 88 HG00099.hp1
HG00323.hp2
HG00438.hp1
others(85): Show 
HG00099.hp1
HG00323.hp2
HG00438.hp1
HG01099.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG02004.hp1
HG02055.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03942.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18954.hp1
NA18967.hp1
NA18984.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2876+1758_2876+175
others(5): Show 
c.2876+1758_2876+1759insT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598310
chr22:43598310 G
G
 GAA
GAA
 16 a0001c0001t0001g0084
a0001c0001t0001g0285
a0002c0002t0001g0116
others(13): Show 
a0001c0001t0001g0084
a0001c0001t0001g0285
a0002c0002t0001g0116
a0002c0002t0001g0122
a0002c0002t0001g0144
a0002c0002t0001g0147
a0003c0003t0001g0206
a0003c0003t0001g0230
a0006c0006t0001g0268
a0006c0006t0001g0272
a0006c0006t0001g0276
a0007c0007t0002g0005
a0007c0014t0002g0016
a0010c0011t0001g0113
a0019c0043t0001g0224
a0021c0036t0001g0138
 16 HG00642.hp2
HG01175.hp2
HG01346.hp1
others(13): Show 
HG00642.hp2
HG01175.hp2
HG01346.hp1
HG01346.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02300.hp1
HG03130.hp2
HG03516.hp1
HG03654.hp2
NA18906.hp2
NA18972.hp1
NA19007.hp1
NA19057.hp2
NA19240.hp2
 intron_variant MODIFIER c.2876+1758_2876+175
others(6): Show 
c.2876+1758_2876+1759insTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598310
chr22:43598310 G
G
 GAAA
GAAA
 33 a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
others(30): Show 
a0001c0013t0001g0188
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0002t0001g0240
a0002c0021t0001g0250
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0231
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
 33 HG00140.hp2
HG00280.hp1
HG00438.hp2
others(30): Show 
HG00140.hp2
HG00280.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG03540.hp1
HG03669.hp1
HG04228.hp1
NA18944.hp1
NA18951.hp2
NA18961.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19060.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+1758_2876+175
others(7): Show 
c.2876+1758_2876+1759insTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598310
chr22:43598310 G
G
 GAAAA
GAAAA
 8 a0003c0003t0001g0023
a0003c0003t0001g0183
a0003c0003t0001g0184
others(5): Show 
a0003c0003t0001g0023
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0210
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0232
a0028c0041t0001g0189
 8 HG00423.hp1
HG01175.hp1
HG02735.hp2
others(5): Show 
HG00423.hp1
HG01175.hp1
HG02735.hp2
HG03942.hp2
NA18950.hp2
NA19066.hp2
NA19083.hp2
NA19084.hp2
 intron_variant MODIFIER c.2876+1758_2876+175
others(8): Show 
c.2876+1758_2876+1759insTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598310
chr22:43598310 G
G
 GAAAAAAA
others(3): Show 
GAAAAAAAAAA
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2876+1758_2876+175
others(14): Show 
c.2876+1758_2876+1759insTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598310
chr22:43598310 G
G
 GAAAAC
GAAAAC
 12 a0002c0002t0001g0120
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0120
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
 intron_variant MODIFIER c.2876+1758_2876+175
others(9): Show 
c.2876+1758_2876+1759insGTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598310
chr22:43598310 G
G
 GAAAACA
GAAAACA
 64 a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
others(61): Show 
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0241
a0002c0021t0001g0179
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
 64 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(61): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18957.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA19004.hp2
NA19005.hp1
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2876+1758_2876+175
others(10): Show 
c.2876+1758_2876+1759insTGTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598310
chr22:43598311 G
G
 A
A
 287 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(284): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 287 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(284): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+1758C>T
c.2876+1758C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598311
chr22:43598315 A
A
 C
C
 11 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0047
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0047
a0001c0001t0001g0059
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0002c0002t0001g0140
a0008c0008t0001g0036
 11 HG00639.hp1
HG02145.hp2
HG03654.hp1
others(8): Show 
HG00639.hp1
HG02145.hp2
HG03654.hp1
HG04115.hp1
NA18946.hp2
NA18954.hp2
NA18960.hp1
NA18999.hp1
NA19000.hp2
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.2876+1754T>G
c.2876+1754T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598315
chr22:43598316 A
A
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.2876+1753T>G
c.2876+1753T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598316
chr22:43598321 A
A
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.2876+1748T>G
c.2876+1748T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598321
chr22:43598322 A
A
 C
C
 59 a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
others(56): Show 
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0047t0001g0178
a0002c0021t0001g0179
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 59 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(56): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18957.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA19004.hp2
NA19005.hp1
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2876+1747T>G
c.2876+1747T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598322
chr22:43598327 A
A
 ACAAAAC
ACAAAAC
 5 a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0203
others(2): Show 
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 5 HG00639.hp1
HG02145.hp2
NA18999.hp1
others(2): Show 
HG00639.hp1
HG02145.hp2
NA18999.hp1
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.2876+1741_2876+174
others(10): Show 
c.2876+1741_2876+1742insGTTTTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598327
chr22:43598353 A
A
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2876+1716T>C
c.2876+1716T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598353
chr22:43598491 A
A
 G
G
 33 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(30): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0024c0033t0001g0181
a0027c0030t0009g0290
 33 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(30): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2876+1578T>C
c.2876+1578T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598491
chr22:43598621 T
T
 C
C
 1 a0005c0020t0001g0161
a0005c0020t0001g0161
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2876+1448A>G
c.2876+1448A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598621
chr22:43598758 T
T
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2876+1311A>T
c.2876+1311A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598758
chr22:43598886 T
T
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2876+1183A>G
c.2876+1183A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598886
chr22:43598926 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2876+1143G>A
c.2876+1143G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598926
chr22:43598995 A
A
 T
T
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2876+1074T>A
c.2876+1074T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43598995
chr22:43599084 G
G
 A
A
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2876+985C>T
c.2876+985C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599084
chr22:43599100 C
C
 G
G
 1 a0005c0004t0001g0110
a0005c0004t0001g0110
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.2876+969G>C
c.2876+969G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599100
chr22:43599238 C
C
 T
T
 2 a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0001g0076
a0001c0001t0001g0255
 2 NA18943.hp2
NA18967.hp1
NA18943.hp2
NA18967.hp1
 intron_variant MODIFIER c.2876+831G>A
c.2876+831G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599238
chr22:43599352 A
A
 G
G
 2 a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0007t0002g0004
a0007c0007t0002g0005
 2 HG03516.hp1
NA18906.hp1
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.2876+717T>C
c.2876+717T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599352
chr22:43599439 G
G
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2876+630C>T
c.2876+630C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599439
chr22:43599509 C
C
 CA
CA
 38 a0001c0023t0001g0254
a0004c0005t0001g0021
a0004c0005t0001g0162
others(35): Show 
a0001c0023t0001g0254
a0004c0005t0001g0021
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0175
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0176
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0108
a0005c0004t0001g0110
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0234
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0005g0014
a0009c0010t0001g0149
a0009c0010t0001g0150
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0026c0028t0003g0003
 38 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(35): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00558.hp1
HG01070.hp1
HG01071.hp1
HG01261.hp2
HG01496.hp1
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02280.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp2
HG02738.hp1
HG03098.hp2
HG04199.hp1
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18984.hp2
NA18999.hp2
NA19043.hp2
NA19060.hp1
NA19070.hp1
NA19091.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.2876+559dupT
c.2876+559dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 C
C
 CAA
CAA
 28 a0004c0005t0001g0165
a0004c0005t0001g0174
a0004c0005t0001g0180
others(25): Show 
a0004c0005t0001g0165
a0004c0005t0001g0174
a0004c0005t0001g0180
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0171
a0004c0012t0001g0019
a0004c0012t0001g0097
a0005c0004t0001g0093
a0005c0004t0001g0107
a0005c0004t0001g0109
a0005c0004t0001g0127
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0002g0004
a0007c0007t0002g0005
a0009c0010t0001g0151
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0022c0039t0001g0091
a0030c0032t0001g0126
 28 HG00438.hp1
HG00621.hp2
HG00735.hp2
others(25): Show 
HG00438.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01243.hp1
HG01433.hp2
HG02083.hp1
HG02257.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02965.hp2
HG03453.hp2
HG03491.hp1
HG03516.hp1
HG03669.hp2
HG04115.hp2
NA18906.hp1
NA18944.hp2
NA18951.hp1
NA18983.hp1
NA18983.hp2
NA19000.hp1
NA19010.hp1
NA19030.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
 intron_variant MODIFIER c.2876+558_2876+559d
others(4): Show 
c.2876+558_2876+559dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 4 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0010
others(1): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0010
a0017c0025t0002g0011
 4 HG02572.hp2
HG02717.hp2
HG03139.hp1
others(1): Show 
HG02572.hp2
HG02717.hp2
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2876+550_2876+559d
others(12): Show 
c.2876+550_2876+559dupTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2876+546_2876+559d
others(16): Show 
c.2876+546_2876+559dupTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 1 a0029c0031t0002g0012
a0029c0031t0002g0012
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.2876+544_2876+559d
others(18): Show 
c.2876+544_2876+559dupTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CA
CA
 C
C
 7 a0001c0001t0001g0078
a0001c0001t0001g0084
a0001c0001t0001g0087
others(4): Show 
a0001c0001t0001g0078
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0027t0001g0075
a0024c0033t0001g0181
 7 HG01175.hp2
HG01433.hp1
HG02818.hp2
others(4): Show 
HG01175.hp2
HG01433.hp1
HG02818.hp2
HG03041.hp2
HG04228.hp2
NA18942.hp2
NA19240.hp2
 intron_variant MODIFIER c.2876+559delT
c.2876+559delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAA
CAA
 C
C
 7 a0001c0001t0001g0077
a0001c0001t0001g0085
a0001c0001t0001g0086
others(4): Show 
a0001c0001t0001g0077
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0256
a0001c0001t0003g0002
a0002c0002t0001g0143
a0031c0022t0001g0237
 7 HG02293.hp2
HG02602.hp2
HG03017.hp1
others(4): Show 
HG02293.hp2
HG02602.hp2
HG03017.hp1
HG03209.hp1
NA19011.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2876+558_2876+559d
others(4): Show 
c.2876+558_2876+559delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
CAAAAAAA
 C
C
 8 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0120
others(5): Show 
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0120
a0002c0002t0001g0133
a0002c0002t0001g0144
a0002c0002t0001g0240
a0003c0003t0001g0209
a0003c0003t0001g0210
 8 HG00423.hp1
HG02145.hp1
HG02886.hp2
others(5): Show 
HG00423.hp1
HG02145.hp1
HG02886.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA19005.hp2
NA19007.hp1
 intron_variant MODIFIER c.2876+553_2876+559d
others(9): Show 
c.2876+553_2876+559delTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 33 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(30): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0118
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0185
a0003c0003t0001g0207
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0229
a0003c0003t0008g0287
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0281
a0028c0041t0001g0189
 33 HG00099.hp1
HG00639.hp2
HG00642.hp2
others(30): Show 
HG00099.hp1
HG00639.hp2
HG00642.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01934.hp1
HG02074.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18961.hp1
NA19060.hp2
NA19084.hp2
NA19240.hp1
 intron_variant MODIFIER c.2876+552_2876+559d
others(10): Show 
c.2876+552_2876+559delTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 28 a0001c0013t0001g0187
a0001c0035t0001g0235
a0002c0002t0001g0141
others(25): Show 
a0001c0013t0001g0187
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0012c0016t0001g0274
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
 28 HG00140.hp2
HG00438.hp2
HG00597.hp1
others(25): Show 
HG00140.hp2
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01255.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG03654.hp2
HG03942.hp2
NA18950.hp2
NA18951.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19057.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2876+551_2876+559d
others(11): Show 
c.2876+551_2876+559delTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 4 a0001c0013t0001g0188
a0001c0013t0001g0208
a0003c0003t0001g0023
others(1): Show 
a0001c0013t0001g0188
a0001c0013t0001g0208
a0003c0003t0001g0023
a0003c0003t0001g0215
 4 HG00280.hp1
HG01081.hp1
HG03669.hp1
others(1): Show 
HG00280.hp1
HG01081.hp1
HG03669.hp1
NA19066.hp2
 intron_variant MODIFIER c.2876+550_2876+559d
others(12): Show 
c.2876+550_2876+559delTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 11 a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0048
others(8): Show 
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0068
a0001c0001t0001g0258
a0001c0013t0001g0031
a0002c0021t0001g0179
a0008c0008t0001g0033
a0023c0034t0001g0082
 11 HG01069.hp2
HG01071.hp2
HG01258.hp2
others(8): Show 
HG01069.hp2
HG01071.hp2
HG01258.hp2
HG02055.hp2
HG03195.hp2
NA18942.hp1
NA18950.hp1
NA18967.hp2
NA18972.hp2
NA19057.hp1
NA19087.hp1
 intron_variant MODIFIER c.2876+548_2876+559d
others(14): Show 
c.2876+548_2876+559delTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 73 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(70): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0002g0008
a0001c0001t0007g0238
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0008c0008t0001g0026
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
 73 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(70): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2876+547_2876+559d
others(15): Show 
c.2876+547_2876+559delTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 C
C
 6 a0001c0001t0001g0039
a0001c0001t0001g0047
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0039
a0001c0001t0001g0047
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0001g0191
a0002c0038t0001g0260
 6 HG00280.hp2
HG02622.hp2
HG02735.hp1
others(3): Show 
HG00280.hp2
HG02622.hp2
HG02735.hp1
HG03017.hp2
HG03834.hp1
NA18946.hp2
 intron_variant MODIFIER c.2876+546_2876+559d
others(16): Show 
c.2876+546_2876+559delTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 C
C
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.2876+545_2876+559d
others(17): Show 
c.2876+545_2876+559delTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 C
C
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.2876+540_2876+559d
others(22): Show 
c.2876+540_2876+559delTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(14): Show 
CAAAAAAAAAAAAAAAAAAAAA
 C
C
 2 a0003c0003t0001g0216
a0009c0010t0001g0148
a0003c0003t0001g0216
a0009c0010t0001g0148
 2 HG01257.hp1
HG02630.hp2
HG01257.hp1
HG02630.hp2
 intron_variant MODIFIER c.2876+539_2876+559d
others(23): Show 
c.2876+539_2876+559delTTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2876+538_2876+559d
others(24): Show 
c.2876+538_2876+559delTTTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599509 CAAAAAAA
others(17): Show 
CAAAAAAAAAAAAAAAAAAAAAAAA
 C
C
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2876+536_2876+559d
others(26): Show 
c.2876+536_2876+559delTTTTTTTTTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599509
chr22:43599644 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2876+425T>C
c.2876+425T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599644
chr22:43599666 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2876+403G>A
c.2876+403G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599666
chr22:43599709 G
G
 A
A
 40 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0236
others(37): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0017c0025t0002g0011
a0029c0031t0002g0012
 40 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(37): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02055.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2876+360C>T
c.2876+360C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599709
chr22:43599779 C
C
 G
G
 1 a0005c0020t0001g0161
a0005c0020t0001g0161
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2876+290G>C
c.2876+290G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 23/31 chr22 43599779
chr22:43600362 C
C
 T
T
 1 a0006c0006t0001g0272
a0006c0006t0001g0272
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2682-99G>A
c.2682-99G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600362
chr22:43600405 C
C
 T
T
 1 a0004c0009t0001g0171
a0004c0009t0001g0171
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2682-142G>A
c.2682-142G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600405
chr22:43600408 A
A
 C
C
 130 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(127): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0017c0025t0002g0011
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 130 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(127): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.2682-145T>G
c.2682-145T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600408
chr22:43600470 G
G
 A
A
 30 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(27): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2682-207C>T
c.2682-207C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600470
chr22:43600647 G
G
 GA
GA
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2682-385_2682-384i
others(3): Show 
c.2682-385_2682-384insT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600647
chr22:43600648 G
G
 A
A
 2 a0001c0001t0001g0153
a0031c0022t0001g0237
a0001c0001t0001g0153
a0031c0022t0001g0237
 2 NA18522.hp1
NA20129.hp2
NA18522.hp1
NA20129.hp2
 intron_variant MODIFIER c.2682-385C>T
c.2682-385C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600648
chr22:43600648 G
G
 T
T
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2682-385C>A
c.2682-385C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600648
chr22:43600648 GT
GT
 G
G
 130 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(127): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 130 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(127): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.2682-386delA
c.2682-386delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600648
chr22:43600720 G
G
 A
A
 17 a0001c0023t0001g0254
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0023t0001g0254
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 17 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(14): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02622.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2682-457C>T
c.2682-457C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600720
chr22:43600726 C
C
 T
T
 10 a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0002g0006
others(7): Show 
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
NA19011.hp2
 intron_variant MODIFIER c.2682-463G>A
c.2682-463G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600726
chr22:43600808 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2682-545C>T
c.2682-545C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600808
chr22:43600905 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2682-642G>A
c.2682-642G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600905
chr22:43600908 C
C
 T
T
 15 a0001c0001t0001g0030
a0001c0001t0001g0076
a0001c0001t0001g0077
others(12): Show 
a0001c0001t0001g0030
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18962.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2682-645G>A
c.2682-645G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600908
chr22:43600956 C
C
 A
A
 1 a0004c0005t0001g0175
a0004c0005t0001g0175
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2682-693G>T
c.2682-693G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600956
chr22:43600963 C
C
 A
A
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2682-700G>T
c.2682-700G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43600963
chr22:43601072 A
A
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2682-809T>A
c.2682-809T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601072
chr22:43601170 T
T
 C
C
 1 a0003c0003t0008g0287
a0003c0003t0008g0287
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.2682-907A>G
c.2682-907A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601170
chr22:43601272 C
C
 T
T
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.2682-1009G>A
c.2682-1009G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601272
chr22:43601447 G
G
 A
A
 1 a0001c0001t0003g0002
a0001c0001t0003g0002
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.2682-1184C>T
c.2682-1184C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601447
chr22:43601529 T
T
 G
G
 7 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(4): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0071
a0001c0001t0001g0190
a0001c0013t0001g0031
 7 HG01258.hp2
HG02004.hp2
HG02040.hp1
others(4): Show 
HG01258.hp2
HG02004.hp2
HG02040.hp1
NA18947.hp1
NA18962.hp2
NA18965.hp1
NA18974.hp1
 intron_variant MODIFIER c.2682-1266A>C
c.2682-1266A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601529
chr22:43601595 T
T
 A
A
 31 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(28): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 31 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(28): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp2
HG03579.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2682-1332A>T
c.2682-1332A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601595
chr22:43601600 G
G
 A
A
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2682-1337C>T
c.2682-1337C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601600
chr22:43601641 T
T
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2682-1378A>C
c.2682-1378A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601641
chr22:43601742 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2682-1479C>T
c.2682-1479C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601742
chr22:43601895 C
C
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2682-1632G>T
c.2682-1632G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601895
chr22:43601948 C
C
 T
T
 20 a0003c0003t0001g0216
a0006c0006t0001g0163
a0006c0006t0001g0257
others(17): Show 
a0003c0003t0001g0216
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 20 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(17): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2682-1685G>A
c.2682-1685G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601948
chr22:43601949 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2682-1686C>T
c.2682-1686C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43601949
chr22:43602067 G
G
 A
A
 4 a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
others(1): Show 
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
 4 HG02040.hp2
NA18957.hp2
NA18961.hp2
others(1): Show 
HG02040.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
 intron_variant MODIFIER c.2682-1804C>T
c.2682-1804C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602067
chr22:43602095 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2682-1832C>T
c.2682-1832C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602095
chr22:43602101 C
C
 G
G
 228 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(225): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 228 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(225): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2682-1838G>C
c.2682-1838G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602101
chr22:43602134 C
C
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2682-1871G>A
c.2682-1871G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602134
chr22:43602157 G
G
 A
A
 1 a0004c0012t0001g0095
a0004c0012t0001g0095
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2682-1894C>T
c.2682-1894C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602157
chr22:43602252 A
A
 G
G
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2682-1989T>C
c.2682-1989T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602252
chr22:43602315 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.2682-2052G>A
c.2682-2052G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602315
chr22:43602366 T
T
 C
C
 31 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(28): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 31 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(28): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2682-2103A>G
c.2682-2103A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602366
chr22:43602442 A
A
 G
G
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 211 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2682-2179T>C
c.2682-2179T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602442
chr22:43602464 G
G
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.2682-2201C>T
c.2682-2201C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602464
chr22:43602546 C
C
 G
G
 2 a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0261
a0002c0002t0001g0262
 2 HG02559.hp2
HG02970.hp2
HG02559.hp2
HG02970.hp2
 intron_variant MODIFIER c.2682-2283G>C
c.2682-2283G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602546
chr22:43602564 A
A
 G
G
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2682-2301T>C
c.2682-2301T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602564
chr22:43602618 G
G
 C
C
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2682-2355C>G
c.2682-2355C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602618
chr22:43602700 C
C
 A
A
 9 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
others(6): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 9 HG00639.hp1
HG02145.hp2
HG02300.hp2
others(6): Show 
HG00639.hp1
HG02145.hp2
HG02300.hp2
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.2682-2437G>T
c.2682-2437G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602700
chr22:43602795 T
T
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2682-2532A>C
c.2682-2532A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602795
chr22:43602809 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2682-2546G>A
c.2682-2546G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602809
chr22:43602844 A
A
 G
G
 31 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(28): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 31 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(28): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2682-2581T>C
c.2682-2581T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602844
chr22:43602876 T
T
 C
C
 2 a0003c0003t0001g0222
a0003c0003t0001g0225
a0003c0003t0001g0222
a0003c0003t0001g0225
 2 NA19004.hp1
NA19084.hp2
NA19004.hp1
NA19084.hp2
 intron_variant MODIFIER c.2682-2613A>G
c.2682-2613A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43602876
chr22:43603112 C
C
 T
T
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.2682-2849G>A
c.2682-2849G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603112
chr22:43603172 G
G
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2682-2909C>G
c.2682-2909C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603172
chr22:43603507 T
T
 C
C
 1 a0003c0003t0001g0232
a0003c0003t0001g0232
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.2682-3244A>G
c.2682-3244A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603507
chr22:43603542 G
G
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2682-3279C>A
c.2682-3279C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603542
chr22:43603594 C
C
 T
T
 1 a0004c0009t0001g0166
a0004c0009t0001g0166
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.2682-3331G>A
c.2682-3331G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603594
chr22:43603624 C
C
 G
G
 11 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(8): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
a0030c0032t0001g0126
 11 HG01243.hp1
HG01496.hp1
HG02717.hp1
others(8): Show 
HG01243.hp1
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.2682-3361G>C
c.2682-3361G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603624
chr22:43603681 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2682-3418C>T
c.2682-3418C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603681
chr22:43603845 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2682-3582T>C
c.2682-3582T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603845
chr22:43603899 G
G
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2682-3636C>G
c.2682-3636C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603899
chr22:43603986 G
G
 C
C
 72 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(69): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 72 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(69): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2682-3723C>G
c.2682-3723C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43603986
chr22:43604069 T
T
 C
C
 1 a0005c0020t0001g0161
a0005c0020t0001g0161
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2682-3806A>G
c.2682-3806A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43604069
chr22:43604071 C
C
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2682-3808G>T
c.2682-3808G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43604071
chr22:43604132 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2682-3869G>A
c.2682-3869G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43604132
chr22:43604203 T
T
 C
C
 61 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(58): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0032c0042t0001g0275
 61 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(58): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2682-3940A>G
c.2682-3940A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43604203
chr22:43604225 A
A
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2682-3962T>C
c.2682-3962T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43604225
chr22:43604831 T
T
 C
C
 77 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(74): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0003c0003t0001g0225
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
 77 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(74): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2681+3651A>G
c.2681+3651A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43604831
chr22:43604879 A
A
 C
C
 3 a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 3 HG03041.hp2
HG03130.hp2
HG03579.hp1
HG03041.hp2
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.2681+3603T>G
c.2681+3603T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43604879
chr22:43605170 C
C
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2681+3312G>T
c.2681+3312G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605170
chr22:43605199 A
A
 C
C
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2681+3283T>G
c.2681+3283T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605199
chr22:43605503 C
C
 T
T
 1 a0013c0018t0001g0092
a0013c0018t0001g0092
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.2681+2979G>A
c.2681+2979G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605503
chr22:43605557 C
C
 T
T
 1 a0005c0004t0001g0107
a0005c0004t0001g0107
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.2681+2925G>A
c.2681+2925G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605557
chr22:43605567 T
T
 C
C
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2681+2915A>G
c.2681+2915A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605567
chr22:43605594 GA
GA
 G
G
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2681+2887delT
c.2681+2887delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605594
chr22:43605669 T
T
 C
C
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.2681+2813A>G
c.2681+2813A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605669
chr22:43605705 G
G
 C
C
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.2681+2777C>G
c.2681+2777C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605705
chr22:43605885 C
C
 T
T
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.2681+2597G>A
c.2681+2597G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605885
chr22:43605894 C
C
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2681+2588G>A
c.2681+2588G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605894
chr22:43605905 C
C
 T
T
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.2681+2577G>A
c.2681+2577G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605905
chr22:43605950 A
A
 G
G
 3 a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 3 HG03041.hp2
HG03130.hp2
HG03579.hp1
HG03041.hp2
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.2681+2532T>C
c.2681+2532T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605950
chr22:43605971 G
G
 A
A
 41 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(38): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2681+2511C>T
c.2681+2511C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43605971
chr22:43606109 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2681+2373A>G
c.2681+2373A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606109
chr22:43606235 G
G
 T
T
 1 a0004c0012t0001g0095
a0004c0012t0001g0095
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2681+2247C>A
c.2681+2247C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606235
chr22:43606239 G
G
 T
T
 1 a0002c0002t0001g0259
a0002c0002t0001g0259
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2681+2243C>A
c.2681+2243C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606239
chr22:43606446 AAATGT
AAATGT
 A
A
 5 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(2): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
 5 HG01243.hp1
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01243.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.2681+2031_2681+203
others(9): Show 
c.2681+2031_2681+2035delACATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606446
chr22:43606574 T
T
 G
G
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.2681+1908A>C
c.2681+1908A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606574
chr22:43606659 G
G
 C
C
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2681+1823C>G
c.2681+1823C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606659
chr22:43606832 T
T
 C
C
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.2681+1650A>G
c.2681+1650A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606832
chr22:43606902 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.2681+1580G>A
c.2681+1580G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606902
chr22:43606940 A
A
 G
G
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2681+1542T>C
c.2681+1542T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606940
chr22:43606977 C
C
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2681+1505G>A
c.2681+1505G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43606977
chr22:43607198 C
C
 T
T
 30 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(27): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2681+1284G>A
c.2681+1284G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607198
chr22:43607202 C
C
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2681+1280G>T
c.2681+1280G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607202
chr22:43607372 G
G
 A
A
 1 a0003c0003t0008g0287
a0003c0003t0008g0287
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.2681+1110C>T
c.2681+1110C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607372
chr22:43607540 C
C
 A
A
 1 a0003c0003t0001g0215
a0003c0003t0001g0215
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.2681+942G>T
c.2681+942G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607540
chr22:43607572 G
G
 C
C
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2681+910C>G
c.2681+910C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607572
chr22:43607621 A
A
 G
G
 2 a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0277
a0006c0006t0001g0278
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.2681+861T>C
c.2681+861T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607621
chr22:43607645 A
A
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2681+837T>C
c.2681+837T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607645
chr22:43607798 A
A
 G
G
 5 a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
others(2): Show 
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0180
a0020c0048t0001g0177
 5 HG02074.hp1
NA18941.hp1
NA19007.hp2
others(2): Show 
HG02074.hp1
NA18941.hp1
NA19007.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.2681+684T>C
c.2681+684T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43607798
chr22:43608117 C
C
 T
T
 10 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(7): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 10 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(7): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
 intron_variant MODIFIER c.2681+365G>A
c.2681+365G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43608117
chr22:43608199 G
G
 A
A
 16 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(13): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 16 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(13): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2681+283C>T
c.2681+283C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43608199
chr22:43608266 G
G
 A
A
 1 a0003c0003t0001g0229
a0003c0003t0001g0229
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.2681+216C>T
c.2681+216C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43608266
chr22:43608425 C
C
 G
G
 13 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(10): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0279
a0006c0006t0001g0280
a0032c0042t0001g0275
 13 HG00323.hp2
HG01243.hp2
HG01346.hp1
others(10): Show 
HG00323.hp2
HG01243.hp2
HG01346.hp1
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2681+57G>C
c.2681+57G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43608425
chr22:43608470 C
C
 T
T
 3 a0003c0003t0001g0228
a0003c0003t0001g0230
a0019c0043t0001g0224
a0003c0003t0001g0228
a0003c0003t0001g0230
a0019c0043t0001g0224
 3 HG00438.hp2
NA18972.hp1
NA19057.hp2
HG00438.hp2
NA18972.hp1
NA19057.hp2
 intron_variant MODIFIER c.2681+12G>A
c.2681+12G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 22/31 chr22 43608470
chr22:43608658 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2563-58T>C
c.2563-58T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43608658
chr22:43608778 G
G
 A
A
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.2563-178C>T
c.2563-178C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43608778
chr22:43608812 G
G
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.2563-212C>A
c.2563-212C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43608812
chr22:43608930 T
T
 C
C
 5 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(2): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
 5 HG01243.hp1
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01243.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.2563-330A>G
c.2563-330A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43608930
chr22:43609050 C
C
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2563-450G>C
c.2563-450G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43609050
chr22:43609266 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2563-666T>C
c.2563-666T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43609266
chr22:43609277 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2563-677T>C
c.2563-677T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43609277
chr22:43609322 C
C
 T
T
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2563-722G>A
c.2563-722G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43609322
chr22:43609359 G
G
 A
A
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.2563-759C>T
c.2563-759C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43609359
chr22:43609656 C
C
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2563-1056G>C
c.2563-1056G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43609656
chr22:43610481 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2563-1881A>G
c.2563-1881A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43610481
chr22:43610576 T
T
 C
C
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.2563-1976A>G
c.2563-1976A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43610576
chr22:43610714 T
T
 A
A
 129 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(126): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 129 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(126): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2563-2114A>T
c.2563-2114A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43610714
chr22:43610967 A
A
 G
G
 1 a0003c0003t0001g0213
a0003c0003t0001g0213
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.2563-2367T>C
c.2563-2367T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43610967
chr22:43611015 T
T
 C
C
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.2563-2415A>G
c.2563-2415A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611015
chr22:43611242 T
T
 C
C
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.2563-2642A>G
c.2563-2642A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611242
chr22:43611478 C
C
 T
T
 42 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(39): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2563-2878G>A
c.2563-2878G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611478
chr22:43611497 G
G
 A
A
 129 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(126): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 129 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(126): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.2563-2897C>T
c.2563-2897C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611497
chr22:43611522 C
C
 T
T
 1 a0004c0005t0001g0180
a0004c0005t0001g0180
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.2563-2922G>A
c.2563-2922G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611522
chr22:43611614 T
T
 A
A
 1 a0004c0012t0001g0019
a0004c0012t0001g0019
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.2563-3014A>T
c.2563-3014A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611614
chr22:43611757 C
C
 G
G
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2563-3157G>C
c.2563-3157G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611757
chr22:43611897 T
T
 C
C
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2563-3297A>G
c.2563-3297A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43611897
chr22:43612153 C
C
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2563-3553G>A
c.2563-3553G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612153
chr22:43612186 T
T
 C
C
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.2563-3586A>G
c.2563-3586A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612186
chr22:43612282 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2562+3544G>A
c.2562+3544G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612282
chr22:43612333 C
C
 G
G
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.2562+3493G>C
c.2562+3493G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612333
chr22:43612417 C
C
 T
T
 1 a0002c0019t0001g0125
a0002c0019t0001g0125
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.2562+3409G>A
c.2562+3409G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612417
chr22:43612420 C
C
 A
A
 7 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
 7 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(4): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02602.hp1
HG02735.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.2562+3406G>T
c.2562+3406G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612420
chr22:43612425 C
C
 A
A
 38 a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
others(35): Show 
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
 38 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(35): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2562+3401G>T
c.2562+3401G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612425
chr22:43612425 C
C
 T
T
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.2562+3401G>A
c.2562+3401G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612425
chr22:43612510 A
A
 C
C
 1 a0005c0004t0001g0234
a0005c0004t0001g0234
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2562+3316T>G
c.2562+3316T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612510
chr22:43612567 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2562+3259C>T
c.2562+3259C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612567
chr22:43612598 C
C
 T
T
 187 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(184): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
 187 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(184): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2562+3228G>A
c.2562+3228G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612598
chr22:43612609 C
C
 T
T
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2562+3217G>A
c.2562+3217G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612609
chr22:43612709 T
T
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2562+3117A>T
c.2562+3117A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612709
chr22:43612822 C
C
 T
T
 2 a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0271
a0006c0006t0001g0272
 2 HG02257.hp2
HG03098.hp1
HG02257.hp2
HG03098.hp1
 intron_variant MODIFIER c.2562+3004G>A
c.2562+3004G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612822
chr22:43612853 C
C
 T
T
 3 a0001c0001t0001g0069
a0001c0001t0001g0070
a0002c0021t0001g0179
a0001c0001t0001g0069
a0001c0001t0001g0070
a0002c0021t0001g0179
 3 NA18967.hp2
NA18979.hp2
NA19083.hp1
NA18967.hp2
NA18979.hp2
NA19083.hp1
 intron_variant MODIFIER c.2562+2973G>A
c.2562+2973G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612853
chr22:43612923 A
A
 C
C
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2562+2903T>G
c.2562+2903T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612923
chr22:43612931 T
T
 TG
TG
 204 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(201): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
 204 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(201): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2562+2894dupC
c.2562+2894dupC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43612931
chr22:43613129 T
T
 G
G
 2 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0154
a0007c0007t0001g0155
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 intron_variant MODIFIER c.2562+2697A>C
c.2562+2697A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43613129
chr22:43613184 CAT
CAT
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2562+2640_2562+264
others(6): Show 
c.2562+2640_2562+2641delAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43613184
chr22:43613231 A
A
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2562+2595T>G
c.2562+2595T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43613231
chr22:43613375 G
G
 A
A
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.2562+2451C>T
c.2562+2451C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43613375
chr22:43613706 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2562+2120C>T
c.2562+2120C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43613706
chr22:43613796 T
T
 C
C
 4 a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
others(1): Show 
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0038t0001g0260
 4 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(1): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02970.hp2
 intron_variant MODIFIER c.2562+2030A>G
c.2562+2030A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43613796
chr22:43613930 C
C
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.2562+1896G>T
c.2562+1896G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43613930
chr22:43614118 G
G
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2562+1708C>A
c.2562+1708C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614118
chr22:43614177 C
C
 CAAAAAAA
others(1): Show 
CAAAAAAAA
 34 a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
others(31): Show 
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0018c0044t0001g0221
a0019c0043t0001g0224
 34 HG00280.hp1
HG00438.hp2
HG00597.hp1
others(31): Show 
HG00280.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02155.hp2
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
 intron_variant MODIFIER c.2562+1641_2562+164
others(12): Show 
c.2562+1641_2562+1648dupTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614177 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2562+1639_2562+164
others(14): Show 
c.2562+1639_2562+1648dupTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614177 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0118
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2562+1638_2562+164
others(15): Show 
c.2562+1638_2562+1648dupTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614177 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 97 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(94): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0006c0006t0001g0269
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0114
a0023c0034t0001g0082
 97 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(94): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG04115.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18967.hp2
NA18974.hp1
NA18984.hp1
NA18999.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.2562+1637_2562+164
others(16): Show 
c.2562+1637_2562+1648dupTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614177 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 33 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
others(30): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0051
a0001c0001t0001g0056
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0236
a0001c0023t0001g0254
a0002c0002t0001g0116
a0002c0002t0001g0121
a0002c0002t0001g0133
a0002c0002t0001g0144
a0002c0002t0001g0147
a0002c0002t0001g0244
a0002c0002t0001g0246
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0010c0011t0001g0113
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0024c0033t0001g0181
a0027c0030t0009g0290
a0031c0022t0001g0237
 33 HG00140.hp2
HG00323.hp2
HG00621.hp1
others(30): Show 
HG00140.hp2
HG00323.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02004.hp1
HG02145.hp1
HG02145.hp2
HG02293.hp1
HG02615.hp1
HG02622.hp1
HG02683.hp1
HG02818.hp1
HG02886.hp2
HG03041.hp2
HG03486.hp1
HG03579.hp1
HG03834.hp1
NA18947.hp1
NA18965.hp1
NA18972.hp2
NA18979.hp2
NA19005.hp1
NA19007.hp1
NA19087.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2562+1636_2562+164
others(17): Show 
c.2562+1636_2562+1648dupTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614177 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 34 a0001c0001t0001g0059
a0001c0001t0001g0076
a0001c0001t0001g0077
others(31): Show 
a0001c0001t0001g0059
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0245
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0270
a0006c0006t0001g0272
a0006c0006t0001g0276
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0022c0039t0001g0091
 34 HG01175.hp2
HG01243.hp1
HG01243.hp2
others(31): Show 
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG02109.hp1
HG02257.hp2
HG02293.hp2
HG02300.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG04228.hp2
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA19000.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2562+1635_2562+164
others(18): Show 
c.2562+1635_2562+1648dupTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614177 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 9 a0001c0001t0001g0255
a0006c0006t0001g0271
a0006c0006t0001g0273
others(6): Show 
a0001c0001t0001g0255
a0006c0006t0001g0271
a0006c0006t0001g0273
a0007c0007t0001g0158
a0007c0014t0002g0015
a0007c0014t0002g0017
a0013c0018t0001g0090
a0021c0036t0001g0138
a0032c0042t0001g0275
 9 HG02572.hp1
HG03098.hp1
HG03130.hp2
others(6): Show 
HG02572.hp1
HG03098.hp1
HG03130.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
NA18967.hp1
NA19030.hp2
NA20129.hp1
 intron_variant MODIFIER c.2562+1634_2562+164
others(19): Show 
c.2562+1634_2562+1648dupTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614177 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2562+1633_2562+164
others(20): Show 
c.2562+1633_2562+1648dupTTTTTTTTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614177
chr22:43614264 A
A
 G
G
 194 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(191): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 194 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(191): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2562+1562T>C
c.2562+1562T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614264
chr22:43614504 A
A
 G
G
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.2562+1322T>C
c.2562+1322T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614504
chr22:43614562 A
A
 G
G
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2562+1264T>C
c.2562+1264T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614562
chr22:43614637 G
G
 C
C
 41 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0236
others(38): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0017c0025t0002g0011
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 41 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(38): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02055.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2562+1189C>G
c.2562+1189C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614637
chr22:43614652 G
G
 A
A
 2 a0001c0001t0001g0195
a0001c0001t0001g0239
a0001c0001t0001g0195
a0001c0001t0001g0239
 2 HG01255.hp2
HG02109.hp2
HG01255.hp2
HG02109.hp2
 intron_variant MODIFIER c.2562+1174C>T
c.2562+1174C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614652
chr22:43614716 T
T
 C
C
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2562+1110A>G
c.2562+1110A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614716
chr22:43614808 G
G
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2562+1018C>T
c.2562+1018C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614808
chr22:43614859 T
T
 C
C
 89 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(86): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 89 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(86): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2562+967A>G
c.2562+967A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614859
chr22:43614863 TTATGGAG
others(23): Show 
TTATGGAGTCCACAGCACAGACAGTCCACTC
 T
T
 2 a0013c0018t0001g0090
a0013c0018t0001g0092
a0013c0018t0001g0090
a0013c0018t0001g0092
 2 HG02630.hp1
NA20129.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.2562+933_2562+962d
others(32): Show 
c.2562+933_2562+962delGAGTGGACTGTCTGTGCTGTGGACTCCA
TA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614863
chr22:43614947 T
T
 A
A
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.2562+879A>T
c.2562+879A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43614947
chr22:43615022 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2562+804C>T
c.2562+804C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43615022
chr22:43615056 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2562+770G>T
c.2562+770G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43615056
chr22:43615275 G
G
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2562+551C>A
c.2562+551C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43615275
chr22:43615347 T
T
 C
C
 3 a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 3 HG03041.hp2
HG03130.hp2
HG03579.hp1
HG03041.hp2
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.2562+479A>G
c.2562+479A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43615347
chr22:43615694 G
G
 T
T
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.2562+132C>A
c.2562+132C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 21/31 chr22 43615694
chr22:43616117 G
G
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.2466-195C>A
c.2466-195C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616117
chr22:43616182 C
C
 T
T
 1 a0004c0005t0001g0022
a0004c0005t0001g0022
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.2466-260G>A
c.2466-260G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616182
chr22:43616208 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2466-286C>T
c.2466-286C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616208
chr22:43616333 C
C
 T
T
 187 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(184): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
 187 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(184): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-411G>A
c.2466-411G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616333
chr22:43616362 T
T
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.2466-440A>T
c.2466-440A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616362
chr22:43616595 C
C
 T
T
 14 a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
others(11): Show 
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
 14 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(11): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2466-673G>A
c.2466-673G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616595
chr22:43616616 AT
AT
 A
A
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-695delA
c.2466-695delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616616
chr22:43616641 G
G
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2466-719C>A
c.2466-719C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616641
chr22:43616763 A
A
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2466-841T>C
c.2466-841T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616763
chr22:43616884 G
G
 A
A
 3 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0122
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0122
 3 HG02145.hp1
HG02451.hp2
NA18906.hp2
HG02145.hp1
HG02451.hp2
NA18906.hp2
 intron_variant MODIFIER c.2466-962C>T
c.2466-962C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43616884
chr22:43617060 T
T
 C
C
 88 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(85): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 88 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(85): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2466-1138A>G
c.2466-1138A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617060
chr22:43617071 T
T
 C
C
 1 a0005c0004t0001g0234
a0005c0004t0001g0234
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2466-1149A>G
c.2466-1149A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617071
chr22:43617164 C
C
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2466-1242G>A
c.2466-1242G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617164
chr22:43617436 T
T
 C
C
 188 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(185): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
 188 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(185): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-1514A>G
c.2466-1514A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617436
chr22:43617644 C
C
 A
A
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2466-1722G>T
c.2466-1722G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617644
chr22:43617648 C
C
 A
A
 2 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0050
a0001c0001t0001g0052
 2 HG00280.hp2
HG06807.hp2
HG00280.hp2
HG06807.hp2
 intron_variant MODIFIER c.2466-1726G>T
c.2466-1726G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617648
chr22:43617686 A
A
 G
G
 11 a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
others(8): Show 
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0013c0018t0001g0090
a0013c0018t0001g0092
 11 HG00323.hp2
HG01346.hp1
HG01515.hp2
others(8): Show 
HG00323.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG02630.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2466-1764T>C
c.2466-1764T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617686
chr22:43617742 T
T
 C
C
 11 a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
others(8): Show 
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0013c0018t0001g0090
a0013c0018t0001g0092
 11 HG00323.hp2
HG01346.hp1
HG01515.hp2
others(8): Show 
HG00323.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG02630.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2466-1820A>G
c.2466-1820A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617742
chr22:43617818 A
A
 T
T
 1 a0001c0046t0001g0067
a0001c0046t0001g0067
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.2466-1896T>A
c.2466-1896T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617818
chr22:43617821 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2466-1899G>A
c.2466-1899G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617821
chr22:43617869 C
C
 T
T
 16 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(13): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 16 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(13): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2466-1947G>A
c.2466-1947G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617869
chr22:43617933 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2466-2011G>A
c.2466-2011G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43617933
chr22:43618115 C
C
 CA
CA
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0116
a0002c0002t0001g0122
a0031c0022t0001g0237
 16 HG01175.hp2
HG02145.hp1
HG02293.hp2
others(13): Show 
HG01175.hp2
HG02145.hp1
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2466-2194dupT
c.2466-2194dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618115
chr22:43618142 G
G
 A
A
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.2466-2220C>T
c.2466-2220C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618142
chr22:43618143 G
G
 GAGGA
GAGGA
 4 a0001c0001t0001g0068
a0001c0001t0001g0079
a0007c0014t0005g0014
others(1): Show 
a0001c0001t0001g0068
a0001c0001t0001g0079
a0007c0014t0005g0014
a0023c0034t0001g0082
 4 HG03195.hp2
NA18945.hp2
NA18972.hp2
others(1): Show 
HG03195.hp2
NA18945.hp2
NA18972.hp2
NA19043.hp2
 intron_variant MODIFIER c.2466-2225_2466-222
others(8): Show 
c.2466-2225_2466-2222dupTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(1): Show 
GAGGAAGGA
 8 a0001c0001t0001g0040
a0001c0001t0001g0074
a0001c0001t0001g0076
others(5): Show 
a0001c0001t0001g0040
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0255
a0002c0021t0001g0179
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
 8 HG02083.hp2
NA18939.hp2
NA18943.hp1
others(5): Show 
HG02083.hp2
NA18939.hp2
NA18943.hp1
NA18943.hp2
NA18954.hp2
NA18967.hp1
NA18967.hp2
NA19057.hp1
 intron_variant MODIFIER c.2466-2229_2466-222
others(12): Show 
c.2466-2229_2466-2222dupTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(5): Show 
GAGGAAGGAAGGA
 21 a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
others(18): Show 
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0047
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0084
a0001c0001t0001g0153
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0199
a0001c0001t0002g0006
a0001c0047t0001g0178
a0003c0003t0001g0215
a0003c0003t0001g0219
a0008c0008t0001g0026
a0008c0008t0001g0038
a0008c0029t0001g0034
a0017c0025t0002g0011
 21 HG00597.hp2
HG02155.hp1
HG02572.hp2
others(18): Show 
HG00597.hp2
HG02155.hp1
HG02572.hp2
HG02602.hp1
HG02735.hp1
HG02738.hp2
HG02895.hp2
HG03492.hp2
HG03669.hp1
NA18522.hp1
NA18941.hp2
NA18946.hp2
NA18963.hp1
NA19010.hp2
NA19011.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.2466-2233_2466-222
others(16): Show 
c.2466-2233_2466-2222dupTCCTTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(9): Show 
GAGGAAGGAAGGAAGGA
 16 a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0085
others(13): Show 
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0191
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0003g0001
a0002c0002t0001g0264
a0003c0003t0001g0229
a0003c0003t0001g0231
a0006c0006t0001g0277
a0006c0006t0001g0278
a0021c0036t0001g0138
a0028c0041t0001g0189
a0029c0031t0002g0012
 16 HG01175.hp1
HG01515.hp2
HG01517.hp2
others(13): Show 
HG01175.hp1
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02717.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03130.hp2
HG03209.hp1
HG06807.hp1
NA18961.hp1
NA18974.hp2
NA19011.hp2
NA19043.hp1
 intron_variant MODIFIER c.2466-2237_2466-222
others(20): Show 
c.2466-2237_2466-2222dupTCCTTCCTTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(13): Show 
GAGGAAGGAAGGAAGGAAGGA
 8 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
others(5): Show 
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0263
a0002c0021t0001g0250
a0006c0006t0001g0280
 8 HG02004.hp1
HG02615.hp2
HG02698.hp1
others(5): Show 
HG02004.hp1
HG02615.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG03139.hp1
HG03195.hp1
HG03579.hp2
 intron_variant MODIFIER c.2466-2241_2466-222
others(24): Show 
c.2466-2241_2466-2222dupTCCTTCCTTCCTTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(17): Show 
GAGGAAGGAAGGAAGGAAGGAAGGA
 8 a0002c0002t0001g0244
a0003c0003t0001g0207
a0003c0003t0001g0213
others(5): Show 
a0002c0002t0001g0244
a0003c0003t0001g0207
a0003c0003t0001g0213
a0003c0003t0001g0217
a0003c0003t0001g0232
a0003c0003t0001g0284
a0006c0006t0001g0265
a0006c0006t0001g0268
 8 HG00323.hp2
HG01255.hp1
HG01346.hp1
others(5): Show 
HG00323.hp2
HG01255.hp1
HG01346.hp1
HG03486.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2245_2466-222
others(28): Show 
c.2466-2245_2466-2222dupTCCTTCCTTCCTTCCTTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(21): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGA
 22 a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0002t0001g0246
others(19): Show 
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0226
a0006c0006t0001g0267
a0006c0006t0001g0279
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0092
 22 HG00140.hp2
HG00423.hp1
HG00639.hp2
others(19): Show 
HG00140.hp2
HG00423.hp1
HG00639.hp2
HG01074.hp1
HG01099.hp2
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02293.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02735.hp2
HG02970.hp2
HG02976.hp2
NA18951.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA20805.hp2
 intron_variant MODIFIER c.2466-2222_2466-222
others(32): Show 
c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC
CT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(25): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
 10 a0002c0002t0001g0242
a0002c0002t0001g0243
a0003c0003t0001g0072
others(7): Show 
a0002c0002t0001g0242
a0002c0002t0001g0243
a0003c0003t0001g0072
a0003c0003t0001g0184
a0003c0003t0001g0206
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0228
a0018c0044t0001g0221
a0019c0043t0001g0224
 10 HG00438.hp2
HG01943.hp2
HG02896.hp1
others(7): Show 
HG00438.hp2
HG01943.hp2
HG02896.hp1
HG02897.hp1
HG03654.hp2
NA18950.hp2
NA18972.hp1
NA19081.hp2
NA19084.hp2
NA19091.hp2
 intron_variant MODIFIER c.2466-2222_2466-222
others(36): Show 
c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(29): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
 9 a0001c0013t0001g0187
a0001c0013t0001g0208
a0003c0003t0001g0183
others(6): Show 
a0001c0013t0001g0187
a0001c0013t0001g0208
a0003c0003t0001g0183
a0003c0003t0001g0209
a0003c0003t0001g0218
a0003c0003t0001g0220
a0003c0003t0008g0287
a0006c0006t0001g0276
a0012c0016t0001g0274
 9 HG00597.hp1
HG01081.hp1
HG02074.hp2
others(6): Show 
HG00597.hp1
HG01081.hp1
HG02074.hp2
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02683.hp1
NA19005.hp2
NA19083.hp2
 intron_variant MODIFIER c.2466-2222_2466-222
others(40): Show 
c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(33): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
 5 a0001c0013t0001g0188
a0003c0003t0001g0222
a0003c0003t0001g0227
others(2): Show 
a0001c0013t0001g0188
a0003c0003t0001g0222
a0003c0003t0001g0227
a0003c0003t0001g0230
a0006c0006t0001g0269
 5 HG00280.hp1
NA18954.hp1
NA19004.hp1
others(2): Show 
HG00280.hp1
NA18954.hp1
NA19004.hp1
NA19009.hp2
NA19057.hp2
 intron_variant MODIFIER c.2466-2222_2466-222
others(44): Show 
c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618143 G
G
 GAGGAAGG
others(53): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
GGAAGGAAGGA
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2466-2222_2466-222
others(64): Show 
c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618143
chr22:43618165 G
G
 GAAAGAAA
others(12): Show 
GAAAGAAAGAAAGAAAGAAA
 1 a0004c0005t0001g0022
a0004c0005t0001g0022
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(23): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAA
GGAAA
 19 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0121
others(16): Show 
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0121
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0247
a0004c0005t0001g0253
a0004c0009t0001g0167
a0004c0009t0001g0171
a0005c0004t0001g0020
a0005c0004t0001g0104
a0005c0004t0001g0107
a0005c0004t0001g0109
a0005c0004t0001g0137
a0005c0004t0001g0234
a0007c0007t0002g0004
a0007c0007t0002g0005
 19 HG00099.hp2
HG00438.hp1
HG00621.hp2
others(16): Show 
HG00099.hp2
HG00438.hp1
HG00621.hp2
HG00735.hp2
HG01081.hp2
HG01884.hp1
HG02145.hp1
HG02451.hp2
HG03491.hp1
HG03516.hp1
NA18906.hp1
NA18944.hp2
NA18951.hp1
NA18963.hp2
NA18965.hp2
NA18984.hp2
NA19079.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.2466-2247_2466-224
others(8): Show 
c.2466-2247_2466-2244dupTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAAGAA
others(1): Show 
GGAAAGAAA
 15 a0002c0002t0001g0118
a0002c0002t0001g0133
a0002c0019t0001g0125
others(12): Show 
a0002c0002t0001g0118
a0002c0002t0001g0133
a0002c0019t0001g0125
a0004c0005t0001g0021
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0252
a0004c0009t0001g0176
a0004c0012t0001g0019
a0005c0004t0001g0108
a0005c0004t0001g0135
a0005c0020t0001g0161
a0005c0020t0001g0169
a0016c0026t0001g0152
a0022c0039t0001g0091
 15 HG00140.hp1
HG00323.hp1
HG01069.hp1
others(12): Show 
HG00140.hp1
HG00323.hp1
HG01069.hp1
HG01243.hp1
HG01934.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp2
HG04199.hp2
NA18960.hp2
NA18983.hp2
NA19000.hp1
 intron_variant MODIFIER c.2466-2251_2466-224
others(12): Show 
c.2466-2251_2466-2244dupTTTCTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAAGAA
others(5): Show 
GGAAAGAAAGAAA
 8 a0002c0002t0001g0111
a0002c0002t0001g0123
a0002c0019t0001g0124
others(5): Show 
a0002c0002t0001g0111
a0002c0002t0001g0123
a0002c0019t0001g0124
a0004c0005t0001g0088
a0004c0005t0001g0251
a0004c0009t0001g0166
a0005c0004t0001g0127
a0020c0048t0001g0177
 8 HG02074.hp1
HG02280.hp2
HG02976.hp1
others(5): Show 
HG02074.hp1
HG02280.hp2
HG02976.hp1
HG03041.hp1
HG03669.hp2
NA18962.hp1
NA19010.hp1
NA19064.hp2
 intron_variant MODIFIER c.2466-2255_2466-224
others(16): Show 
c.2466-2255_2466-2244dupTTTCTTTCTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAAGAA
others(9): Show 
GGAAAGAAAGAAAGAAA
 3 a0004c0005t0001g0089
a0004c0005t0001g0248
a0004c0012t0001g0134
a0004c0005t0001g0089
a0004c0005t0001g0248
a0004c0012t0001g0134
 3 HG04199.hp1
NA19007.hp2
NA19060.hp1
HG04199.hp1
NA19007.hp2
NA19060.hp1
 intron_variant MODIFIER c.2466-2259_2466-224
others(20): Show 
c.2466-2259_2466-2244dupTTTCTTTCTTTCTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(1): Show 
GGAAGGAAA
 11 a0001c0023t0001g0254
a0004c0012t0001g0097
a0005c0004t0001g0110
others(8): Show 
a0001c0023t0001g0254
a0004c0012t0001g0097
a0005c0004t0001g0110
a0007c0007t0001g0156
a0007c0007t0001g0158
a0007c0007t0001g0160
a0007c0014t0002g0016
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0114
a0015c0024t0001g0128
 11 HG00099.hp1
HG01496.hp2
HG01516.hp2
others(8): Show 
HG00099.hp1
HG01496.hp2
HG01516.hp2
HG02109.hp1
HG02622.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG04115.hp2
NA18947.hp2
NA18983.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(12): Show 
c.2466-2244_2466-2243insTTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(5): Show 
GGAAGGAAAGAAA
 4 a0007c0014t0002g0017
a0009c0010t0001g0286
a0010c0011t0001g0112
others(1): Show 
a0007c0014t0002g0017
a0009c0010t0001g0286
a0010c0011t0001g0112
a0010c0011t0001g0113
 4 HG00642.hp2
HG01169.hp1
HG02572.hp1
others(1): Show 
HG00642.hp2
HG01169.hp1
HG02572.hp1
NA18522.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(16): Show 
c.2466-2244_2466-2243insTTTCTTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(9): Show 
GGAAGGAAAGAAAGAAA
 2 a0002c0002t0004g0288
a0007c0007t0001g0157
a0002c0002t0004g0288
a0007c0007t0001g0157
 2 HG02723.hp1
NA19240.hp1
HG02723.hp1
NA19240.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(20): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(13): Show 
GGAAGGAAAGAAAGAAAGAAA
 2 a0001c0001t0001g0236
a0007c0014t0002g0018
a0001c0001t0001g0236
a0007c0014t0002g0018
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(24): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(17): Show 
GGAAGGAAAGAAAGAAAGAAAGAAA
 2 a0002c0002t0004g0289
a0009c0010t0001g0148
a0002c0002t0004g0289
a0009c0010t0001g0148
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(28): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(21): Show 
GGAAGGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0002c0002t0001g0117
a0002c0002t0001g0117
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(32): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCTTTCCT
TC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(5): Show 
GGAAGGAAGGAAA
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(16): Show 
c.2466-2244_2466-2243insTTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(9): Show 
GGAAGGAAGGAAAGAAA
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(20): Show 
c.2466-2244_2466-2243insTTTCTTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(17): Show 
GGAAGGAAGGAAAGAAAGAAAGAAA
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(28): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(9): Show 
GGAAGGAAGGAAGGAAA
 16 a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0048
others(13): Show 
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0080
a0001c0001t0001g0200
a0001c0001t0007g0238
a0008c0008t0001g0033
a0024c0033t0001g0181
 16 HG00423.hp2
HG00558.hp2
HG00642.hp1
others(13): Show 
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01261.hp1
HG03041.hp2
NA18942.hp1
NA18947.hp1
NA18960.hp1
NA18979.hp2
NA18984.hp1
NA19004.hp2
NA19005.hp1
NA19066.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(20): Show 
c.2466-2244_2466-2243insTTTCCTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(13): Show 
GGAAGGAAGGAAGGAAAGAAA
 14 a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
others(11): Show 
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0190
a0001c0001t0001g0198
a0001c0001t0001g0201
a0002c0002t0001g0140
 14 HG00621.hp1
HG01934.hp2
HG02004.hp2
others(11): Show 
HG00621.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02145.hp2
HG02698.hp2
HG03654.hp1
NA18950.hp1
NA18957.hp1
NA19000.hp2
NA19064.hp1
NA19070.hp2
NA19081.hp1
NA19083.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(24): Show 
c.2466-2244_2466-2243insTTTCTTTCCTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(17): Show 
GGAAGGAAGGAAGGAAAGAAAGAAA
 7 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0071
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0071
a0001c0001t0001g0258
a0001c0013t0001g0031
a0014c0017t0001g0282
a0014c0017t0001g0283
 7 HG00280.hp2
HG01258.hp2
HG02055.hp2
others(4): Show 
HG00280.hp2
HG01258.hp2
HG02055.hp2
HG03491.hp2
HG03492.hp1
HG06807.hp2
NA18974.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(28): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCCTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(21): Show 
GGAAGGAAGGAAGGAAAGAAAGAAAGAAA
 6 a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0196
others(3): Show 
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0196
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0046t0001g0067
 6 HG01070.hp2
HG02300.hp2
HG02886.hp1
others(3): Show 
HG01070.hp2
HG02300.hp2
HG02886.hp1
NA18962.hp2
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(32): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTCCTTCCT
TC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(25): Show 
GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA
 2 a0001c0001t0001g0039
a0001c0001t0001g0205
a0001c0001t0001g0039
a0001c0001t0001g0205
 2 HG03834.hp1
NA18999.hp1
HG03834.hp1
NA18999.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(36): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCCTTCCT
TCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(29): Show 
GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(40): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCTTTCCT
TCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(12): Show 
GGAAGGAAGGAAGGAAGAAA
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(23): Show 
c.2466-2244_2466-2243insTTTCTTCCTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(13): Show 
GGAAGGAAGGAAGGAAGGAAA
 4 a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0193
others(1): Show 
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0193
a0001c0001t0001g0195
 4 HG01169.hp2
HG01255.hp2
NA18939.hp1
others(1): Show 
HG01169.hp2
HG01255.hp2
NA18939.hp1
NA18942.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(24): Show 
c.2466-2244_2466-2243insTTTCCTTCCTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(17): Show 
GGAAGGAAGGAAGGAAGGAAAGAAA
 4 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0256
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0256
a0001c0001t0003g0002
 4 HG02293.hp2
HG03017.hp1
HG04115.hp1
others(1): Show 
HG02293.hp2
HG03017.hp1
HG04115.hp1
NA19087.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(28): Show 
c.2466-2244_2466-2243insTTTCTTTCCTTCCTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(21): Show 
GGAAGGAAGGAAGGAAGGAAAGAAAGAAA
 1 a0001c0001t0001g0239
a0001c0001t0001g0239
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(32): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCCTTCCTTCCTTCCT
TC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(25): Show 
GGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAA
 1 a0001c0027t0001g0075
a0001c0027t0001g0075
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(36): Show 
c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTCCTTCCT
TCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(17): Show 
GGAAGGAAGGAAGGAAGGAAGGAAA
 1 a0001c0001t0001g0285
a0001c0001t0001g0285
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.2466-2244_2466-224
others(28): Show 
c.2466-2244_2466-2243insTTTCCTTCCTTCCTTCCTTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(21): Show 
GGAAGGAAGGAAGGAAGGAAGGAAAGAAA
 1 a0008c0008t0001g0202
a0008c0008t0001g0202
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(32): Show 
c.2466-2244_2466-2243insTTTCTTTCCTTCCTTCCTTCCTTCCT
TC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 G
G
 GGAAGGAA
others(21): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAAA
 2 a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0240
a0002c0002t0001g0245
 2 HG03516.hp2
HG03540.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.2466-2244_2466-224
others(32): Show 
c.2466-2244_2466-2243insTTTCCTTCCTTCCTTCCTTCCTTCCT
TC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 GGAAA
GGAAA
 G
G
 3 a0006c0006t0001g0163
a0006c0006t0001g0273
a0030c0032t0001g0126
a0006c0006t0001g0163
a0006c0006t0001g0273
a0030c0032t0001g0126
 3 HG01243.hp2
HG02717.hp1
HG03453.hp1
HG01243.hp2
HG02717.hp1
HG03453.hp1
 intron_variant MODIFIER c.2466-2247_2466-224
others(8): Show 
c.2466-2247_2466-2244delTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 GGAAAGAA
others(1): Show 
GGAAAGAAA
 G
G
 8 a0001c0013t0001g0233
a0002c0002t0001g0139
a0002c0002t0001g0143
others(5): Show 
a0001c0013t0001g0233
a0002c0002t0001g0139
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0147
a0005c0004t0001g0105
a0011c0015t0001g0099
a0011c0015t0001g0100
 8 HG01070.hp1
HG01071.hp1
HG01099.hp1
others(5): Show 
HG01070.hp1
HG01071.hp1
HG01099.hp1
HG01346.hp2
HG02602.hp2
HG03209.hp2
NA18946.hp1
NA19007.hp1
 intron_variant MODIFIER c.2466-2251_2466-224
others(12): Show 
c.2466-2251_2466-2244delTTTCTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 GGAAAGAA
others(5): Show 
GGAAAGAAAGAAA
 G
G
 4 a0002c0002t0001g0145
a0002c0002t0001g0146
a0011c0015t0001g0102
others(1): Show 
a0002c0002t0001g0145
a0002c0002t0001g0146
a0011c0015t0001g0102
a0026c0028t0003g0003
 4 HG01257.hp2
HG01258.hp1
HG01261.hp2
others(1): Show 
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG02738.hp1
 intron_variant MODIFIER c.2466-2255_2466-224
others(16): Show 
c.2466-2255_2466-2244delTTTCTTTCTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618165 GGAAAGAA
others(9): Show 
GGAAAGAAAGAAAGAAA
 G
G
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.2466-2259_2466-224
others(20): Show 
c.2466-2259_2466-2244delTTTCTTTCTTTCTTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618165
chr22:43618169 A
A
 G
G
 91 a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0068
others(88): Show 
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0255
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0120
a0002c0002t0001g0141
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0159
a0007c0014t0002g0015
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
 91 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(88): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02083.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18939.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2247T>C
c.2466-2247T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618169
chr22:43618173 A
A
 G
G
 75 a0001c0001t0001g0041
a0001c0001t0001g0068
a0001c0001t0001g0076
others(72): Show 
a0001c0001t0001g0041
a0001c0001t0001g0068
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0255
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0120
a0002c0002t0001g0141
a0002c0002t0001g0244
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2251T>C
c.2466-2251T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618173
chr22:43618177 A
A
 G
G
 68 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
others(65): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
 68 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(65): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2255T>C
c.2466-2255T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618177
chr22:43618181 A
A
 G
G
 64 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
others(61): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
 64 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(61): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2259T>C
c.2466-2259T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618181
chr22:43618185 A
A
 G
G
 46 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
others(43): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0021t0001g0250
a0003c0003t0001g0072
a0003c0003t0001g0186
a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0217
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0008g0287
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0013c0018t0001g0090
a0017c0025t0002g0011
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
 46 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(43): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18951.hp2
NA18954.hp1
NA18961.hp1
NA18974.hp2
NA19004.hp1
NA19009.hp2
NA19057.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2466-2263T>C
c.2466-2263T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618185
chr22:43618189 A
A
 G
G
 31 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
others(28): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0035t0001g0235
a0002c0021t0001g0250
a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0219
a0003c0003t0001g0223
a0003c0003t0001g0227
a0003c0003t0001g0232
a0006c0006t0001g0265
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0017c0025t0002g0011
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
 31 HG00323.hp2
HG00423.hp1
HG01099.hp2
others(28): Show 
HG00323.hp2
HG00423.hp1
HG01099.hp2
HG01175.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18951.hp2
NA18954.hp1
NA19009.hp2
NA19077.hp1
NA19077.hp2
NA19091.hp2
 intron_variant MODIFIER c.2466-2267T>C
c.2466-2267T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618189
chr22:43618193 A
A
 G
G
 17 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(14): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0035t0001g0235
a0003c0003t0001g0207
a0003c0003t0001g0210
a0006c0006t0001g0265
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0017c0025t0002g0011
a0028c0041t0001g0189
a0029c0031t0002g0012
 17 HG00323.hp2
HG00423.hp1
HG01175.hp1
others(14): Show 
HG00323.hp2
HG00423.hp1
HG01175.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
NA18944.hp1
NA18951.hp2
 intron_variant MODIFIER c.2466-2271T>C
c.2466-2271T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618193
chr22:43618197 A
A
 G
G
 5 a0003c0003t0001g0207
a0006c0006t0001g0277
a0006c0006t0001g0278
others(2): Show 
a0003c0003t0001g0207
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
 5 HG01515.hp2
HG01517.hp2
HG02004.hp1
others(2): Show 
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
NA18944.hp1
 intron_variant MODIFIER c.2466-2275T>C
c.2466-2275T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618197
chr22:43618201 A
A
 G
G
 1 a0003c0003t0001g0207
a0003c0003t0001g0207
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.2466-2279T>C
c.2466-2279T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618201
chr22:43618223 A
A
 G
G
 47 a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0013t0001g0187
others(44): Show 
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 47 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(44): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2301T>C
c.2466-2301T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618223
chr22:43618227 A
A
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2466-2305T>C
c.2466-2305T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618227
chr22:43618319 TC
TC
 T
T
 88 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(85): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 88 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(85): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2466-2398delG
c.2466-2398delG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618319
chr22:43618354 C
C
 A
A
 46 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(43): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 46 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2432G>T
c.2466-2432G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618354
chr22:43618369 G
G
 A
A
 2 a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0040
a0001c0001t0001g0042
 2 NA18950.hp1
NA19057.hp1
NA18950.hp1
NA19057.hp1
 intron_variant MODIFIER c.2466-2447C>T
c.2466-2447C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618369
chr22:43618413 G
G
 A
A
 88 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(85): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 88 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(85): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2466-2491C>T
c.2466-2491C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618413
chr22:43618577 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2466-2655C>T
c.2466-2655C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618577
chr22:43618601 T
T
 G
G
 46 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(43): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 46 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2679A>C
c.2466-2679A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618601
chr22:43618761 T
T
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2466-2839A>T
c.2466-2839A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618761
chr22:43618910 CT
CT
 C
C
 274 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(271): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-2989delA
c.2466-2989delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618910
chr22:43618912 T
T
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2466-2990A>G
c.2466-2990A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618912
chr22:43618979 C
C
 T
T
 147 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(144): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0029c0031t0002g0012
a0032c0042t0001g0275
 147 HG00099.hp1
HG00280.hp2
HG00323.hp2
others(144): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.2466-3057G>A
c.2466-3057G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43618979
chr22:43619058 T
T
 C
C
 73 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(70): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0021t0001g0179
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 73 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(70): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2466-3136A>G
c.2466-3136A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619058
chr22:43619154 T
T
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2466-3232A>G
c.2466-3232A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619154
chr22:43619411 A
A
 G
G
 133 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(130): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 133 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(130): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2466-3489T>C
c.2466-3489T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619411
chr22:43619546 A
A
 C
C
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.2466-3624T>G
c.2466-3624T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619546
chr22:43619611 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2466-3689G>A
c.2466-3689G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619611
chr22:43619647 C
C
 T
T
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2466-3725G>A
c.2466-3725G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619647
chr22:43619708 A
A
 C
C
 11 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(8): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 11 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(8): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03139.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.2466-3786T>G
c.2466-3786T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619708
chr22:43619854 A
A
 C
C
 21 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(18): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0032c0042t0001g0275
 21 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(18): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2466-3932T>G
c.2466-3932T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619854
chr22:43619875 TTA
TTA
 T
T
 5 a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0145
others(2): Show 
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 5 HG01099.hp1
HG01257.hp2
HG01258.hp1
others(2): Show 
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
 intron_variant MODIFIER c.2466-3955_2466-395
others(6): Show 
c.2466-3955_2466-3954delTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619875
chr22:43619948 C
C
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.2466-4026G>C
c.2466-4026G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43619948
chr22:43620017 T
T
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2466-4095A>G
c.2466-4095A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620017
chr22:43620047 A
A
 G
G
 212 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(209): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 212 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-4125T>C
c.2466-4125T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620047
chr22:43620096 T
T
 C
C
 2 a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0131
a0005c0004t0001g0132
 2 HG02040.hp2
NA18961.hp2
HG02040.hp2
NA18961.hp2
 intron_variant MODIFIER c.2466-4174A>G
c.2466-4174A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620096
chr22:43620307 T
T
 C
C
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2466-4385A>G
c.2466-4385A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620307
chr22:43620342 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.2466-4420T>C
c.2466-4420T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620342
chr22:43620364 G
G
 A
A
 89 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(86): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
 89 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(86): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2466-4442C>T
c.2466-4442C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620364
chr22:43620385 C
C
 T
T
 33 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(30): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
 33 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(30): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03540.hp2
HG03579.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2466-4463G>A
c.2466-4463G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620385
chr22:43620467 G
G
 GA
GA
 46 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(43): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 46 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2466-4546dupT
c.2466-4546dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620467
chr22:43620680 T
T
 C
C
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2466-4758A>G
c.2466-4758A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620680
chr22:43620827 T
T
 C
C
 3 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
 3 NA18947.hp1
NA18960.hp1
NA18965.hp1
NA18947.hp1
NA18960.hp1
NA18965.hp1
 intron_variant MODIFIER c.2466-4905A>G
c.2466-4905A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620827
chr22:43620968 T
T
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2466-5046A>C
c.2466-5046A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43620968
chr22:43621041 C
C
 T
T
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2466-5119G>A
c.2466-5119G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621041
chr22:43621087 C
C
 G
G
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.2466-5165G>C
c.2466-5165G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621087
chr22:43621089 A
A
 AT
AT
 8 a0001c0001t0001g0078
a0001c0001t0001g0081
a0007c0007t0001g0156
others(5): Show 
a0001c0001t0001g0078
a0001c0001t0001g0081
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0160
a0015c0024t0001g0128
a0022c0039t0001g0091
 8 HG01243.hp1
HG02723.hp1
HG02965.hp2
others(5): Show 
HG01243.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG04115.hp2
NA18939.hp1
NA18942.hp2
 intron_variant MODIFIER c.2466-5168dupA
c.2466-5168dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621089
chr22:43621089 AT
AT
 A
A
 16 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(13): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0023t0001g0254
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0007c0014t0002g0016
a0017c0025t0002g0011
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 16 HG00099.hp2
HG00140.hp1
HG02055.hp1
others(13): Show 
HG00099.hp2
HG00140.hp1
HG02055.hp1
HG02109.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03139.hp1
HG03579.hp1
HG06807.hp1
NA19007.hp2
 intron_variant MODIFIER c.2466-5168delA
c.2466-5168delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621089
chr22:43621089 ATT
ATT
 A
A
 122 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(119): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0090
a0013c0018t0001g0092
a0021c0036t0001g0138
a0023c0034t0001g0082
 122 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(119): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2466-5169_2466-516
others(6): Show 
c.2466-5169_2466-5168delAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621089
chr22:43621254 G
G
 GATTT
GATTT
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0140
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2465+5189_2465+519
others(8): Show 
c.2465+5189_2465+5192dupAAAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621254
chr22:43621290 C
C
 T
T
 31 a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
others(28): Show 
a0001c0001t0001g0087
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 31 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(28): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2465+5157G>A
c.2465+5157G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621290
chr22:43621427 T
T
 C
C
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2465+5020A>G
c.2465+5020A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621427
chr22:43621438 A
A
 T
T
 30 a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
others(27): Show 
a0001c0001t0001g0236
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00642.hp2
HG01099.hp1
others(27): Show 
HG00099.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.2465+5009T>A
c.2465+5009T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621438
chr22:43621583 C
C
 T
T
 212 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(209): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 212 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+4864G>A
c.2465+4864G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621583
chr22:43621800 T
T
 C
C
 3 a0002c0021t0001g0250
a0003c0003t0001g0229
a0003c0003t0001g0231
a0002c0021t0001g0250
a0003c0003t0001g0229
a0003c0003t0001g0231
 3 HG02698.hp1
NA18961.hp1
NA18974.hp2
HG02698.hp1
NA18961.hp1
NA18974.hp2
 intron_variant MODIFIER c.2465+4647A>G
c.2465+4647A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621800
chr22:43621807 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2465+4640C>T
c.2465+4640C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621807
chr22:43621839 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2465+4608A>G
c.2465+4608A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43621839
chr22:43622222 T
T
 G
G
 6 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(3): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
a0030c0032t0001g0126
 6 HG01243.hp1
HG02717.hp1
HG02895.hp1
others(3): Show 
HG01243.hp1
HG02717.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.2465+4225A>C
c.2465+4225A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43622222
chr22:43622391 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.2465+4056G>A
c.2465+4056G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43622391
chr22:43622442 T
T
 C
C
 1 a0003c0003t0001g0183
a0003c0003t0001g0183
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.2465+4005A>G
c.2465+4005A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43622442
chr22:43622481 G
G
 A
A
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.2465+3966C>T
c.2465+3966C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43622481
chr22:43622701 C
C
 T
T
 120 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(117): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0233
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0021c0036t0001g0138
a0023c0034t0001g0082
 120 HG00099.hp1
HG00280.hp2
HG00423.hp2
others(117): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.2465+3746G>A
c.2465+3746G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43622701
chr22:43622860 G
G
 C
C
 2 a0001c0001t0001g0195
a0001c0001t0001g0239
a0001c0001t0001g0195
a0001c0001t0001g0239
 2 HG01255.hp2
HG02109.hp2
HG01255.hp2
HG02109.hp2
 intron_variant MODIFIER c.2465+3587C>G
c.2465+3587C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43622860
chr22:43622896 A
A
 C
C
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2465+3551T>G
c.2465+3551T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43622896
chr22:43623003 T
T
 C
C
 43 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(40): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0035t0001g0235
a0002c0002t0001g0141
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 43 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(40): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02698.hp1
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+3444A>G
c.2465+3444A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623003
chr22:43623087 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2465+3360A>G
c.2465+3360A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623087
chr22:43623131 A
A
 G
G
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2465+3316T>C
c.2465+3316T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623131
chr22:43623174 T
T
 C
C
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2465+3273A>G
c.2465+3273A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623174
chr22:43623211 A
A
 G
G
 212 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(209): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 212 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+3236T>C
c.2465+3236T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623211
chr22:43623463 A
A
 C
C
 1 a0001c0001t0002g0007
a0001c0001t0002g0007
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.2465+2984T>G
c.2465+2984T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623463
chr22:43623550 A
A
 G
G
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2465+2897T>C
c.2465+2897T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623550
chr22:43623623 C
C
 T
T
 1 a0008c0008t0001g0035
a0008c0008t0001g0035
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.2465+2824G>A
c.2465+2824G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623623
chr22:43623633 C
C
 T
T
 6 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(3): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0185
a0003c0003t0001g0186
a0004c0012t0001g0094
 6 HG03834.hp2
NA18979.hp1
NA19060.hp2
others(3): Show 
HG03834.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.2465+2814G>A
c.2465+2814G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623633
chr22:43623691 C
C
 T
T
 4 a0007c0007t0001g0160
a0009c0010t0001g0149
a0009c0010t0001g0150
others(1): Show 
a0007c0007t0001g0160
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 4 HG01884.hp2
HG02280.hp1
HG03098.hp2
others(1): Show 
HG01884.hp2
HG02280.hp1
HG03098.hp2
NA19030.hp1
 intron_variant MODIFIER c.2465+2756G>A
c.2465+2756G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623691
chr22:43623711 T
T
 C
C
 34 a0001c0001t0002g0006
a0001c0023t0001g0254
a0002c0002t0001g0139
others(31): Show 
a0001c0001t0002g0006
a0001c0023t0001g0254
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0264
a0005c0004t0001g0135
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0009c0010t0001g0151
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0092
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0030c0032t0001g0126
 34 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(31): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01099.hp1
HG01169.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp1
NA18906.hp1
NA19007.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.2465+2736A>G
c.2465+2736A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623711
chr22:43623712 A
A
 G
G
 35 a0001c0001t0002g0006
a0001c0023t0001g0254
a0002c0002t0001g0139
others(32): Show 
a0001c0001t0002g0006
a0001c0023t0001g0254
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0264
a0005c0004t0001g0135
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0009c0010t0001g0151
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0092
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0030c0032t0001g0126
 35 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(32): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01074.hp1
HG01099.hp1
HG01169.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp1
NA18906.hp1
NA19007.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.2465+2735T>C
c.2465+2735T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623712
chr22:43623739 C
C
 CA
CA
 64 a0001c0001t0001g0025
a0001c0001t0001g0039
a0001c0001t0001g0041
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0236
a0001c0001t0001g0258
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0035t0001g0235
a0002c0002t0001g0118
a0002c0002t0001g0141
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0097
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0160
a0013c0018t0001g0090
a0015c0024t0001g0128
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0024c0033t0001g0181
a0028c0041t0001g0189
 64 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(61): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02055.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03453.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+2707dupT
c.2465+2707dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623739
chr22:43623739 CA
CA
 C
C
 73 a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0002g0007
others(70): Show 
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
a0002c0002t0001g0115
a0002c0002t0001g0143
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0250
a0002c0038t0001g0260
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0005g0014
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0020c0048t0001g0177
a0032c0042t0001g0275
 73 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(70): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01169.hp1
HG01243.hp2
HG01346.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG02004.hp1
HG02074.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18954.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18983.hp2
NA18999.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2465+2707delT
c.2465+2707delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623739
chr22:43623739 CAA
CAA
 C
C
 18 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(15): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0002g0006
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0021c0036t0001g0138
a0031c0022t0001g0237
 18 HG02109.hp1
HG02293.hp2
HG02572.hp1
others(15): Show 
HG02109.hp1
HG02293.hp2
HG02572.hp1
HG02622.hp1
HG02818.hp2
HG02895.hp2
HG03017.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2465+2706_2465+270
others(6): Show 
c.2465+2706_2465+2707delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623739
chr22:43623781 C
C
 T
T
 228 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(225): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0004t0001g0108
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 228 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(225): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+2666G>A
c.2465+2666G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623781
chr22:43623821 A
A
 G
G
 52 a0001c0001t0001g0041
a0001c0001t0001g0056
a0001c0001t0001g0236
others(49): Show 
a0001c0001t0001g0041
a0001c0001t0001g0056
a0001c0001t0001g0236
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0005c0004t0001g0135
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 52 HG00280.hp1
HG00323.hp1
HG00423.hp1
others(49): Show 
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02451.hp1
HG02602.hp2
HG02735.hp2
HG02818.hp1
HG03209.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp1
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+2626T>C
c.2465+2626T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623821
chr22:43623858 G
G
 A
A
 1 a0003c0003t0001g0184
a0003c0003t0001g0184
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.2465+2589C>T
c.2465+2589C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623858
chr22:43623865 C
C
 T
T
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0009c0010t0001g0148
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02630.hp2
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02630.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2465+2582G>A
c.2465+2582G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623865
chr22:43623866 G
G
 A
A
 13 a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
others(10): Show 
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 13 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(10): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG02074.hp1
HG02683.hp2
HG04199.hp2
NA18941.hp1
NA18967.hp2
NA18983.hp2
NA19007.hp2
NA19010.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.2465+2581C>T
c.2465+2581C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623866
chr22:43623868 CACT
CACT
 C
C
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.2465+2576_2465+257
others(7): Show 
c.2465+2576_2465+2578delAGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623868
chr22:43623908 C
C
 CA
CA
 81 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(78): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0005c0004t0001g0127
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0013c0018t0001g0090
a0013c0018t0001g0092
a0023c0034t0001g0082
 81 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(78): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03492.hp2
HG03669.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18979.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2465+2538dupT
c.2465+2538dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623908
chr22:43623914 AAAAAAAA
others(2): Show 
AAAAAAAAAG
 A
A
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0004c0012t0001g0094
a0004c0012t0001g0095
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG03834.hp2
HG03942.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2465+2524_2465+253
others(13): Show 
c.2465+2524_2465+2532delCTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623914
chr22:43623929 A
A
 G
G
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.2465+2518T>C
c.2465+2518T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623929
chr22:43623954 G
G
 A
A
 42 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(39): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+2493C>T
c.2465+2493C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43623954
chr22:43624090 T
T
 C
C
 1 a0001c0013t0001g0031
a0001c0013t0001g0031
 1 HG01258.hp2
HG01258.hp2
 intron_variant MODIFIER c.2465+2357A>G
c.2465+2357A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43624090
chr22:43624296 C
C
 T
T
 38 a0001c0001t0001g0153
a0006c0006t0001g0163
a0006c0006t0001g0257
others(35): Show 
a0001c0001t0001g0153
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0030c0032t0001g0126
a0032c0042t0001g0275
 38 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(35): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02109.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA18954.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2465+2151G>A
c.2465+2151G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43624296
chr22:43624431 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2465+2016G>A
c.2465+2016G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43624431
chr22:43624559 C
C
 A
A
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.2465+1888G>T
c.2465+1888G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43624559
chr22:43624794 G
G
 A
A
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2465+1653C>T
c.2465+1653C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43624794
chr22:43624899 G
G
 A
A
 2 a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0121
a0002c0002t0001g0129
 2 HG01884.hp1
HG02809.hp1
HG01884.hp1
HG02809.hp1
 intron_variant MODIFIER c.2465+1548C>T
c.2465+1548C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43624899
chr22:43624927 C
C
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0031c0022t0001g0237
 14 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2465+1520G>A
c.2465+1520G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43624927
chr22:43625054 T
T
 C
C
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.2465+1393A>G
c.2465+1393A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625054
chr22:43625107 CAAAAT
CAAAAT
 C
C
 73 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(70): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 73 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(70): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2465+1335_2465+133
others(9): Show 
c.2465+1335_2465+1339delATTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625107
chr22:43625154 A
A
 T
T
 17 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 17 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(14): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2465+1293T>A
c.2465+1293T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625154
chr22:43625195 G
G
 A
A
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.2465+1252C>T
c.2465+1252C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625195
chr22:43625258 G
G
 A
A
 17 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 17 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(14): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2465+1189C>T
c.2465+1189C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625258
chr22:43625344 T
T
 A
A
 75 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(72): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 75 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2465+1103A>T
c.2465+1103A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625344
chr22:43625356 C
C
 T
T
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2465+1091G>A
c.2465+1091G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625356
chr22:43625475 G
G
 A
A
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.2465+972C>T
c.2465+972C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625475
chr22:43625950 G
G
 A
A
 3 a0005c0004t0001g0020
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0020
a0005c0004t0001g0131
a0005c0004t0001g0132
 3 HG02040.hp2
NA18961.hp2
NA18965.hp2
HG02040.hp2
NA18961.hp2
NA18965.hp2
 intron_variant MODIFIER c.2465+497C>T
c.2465+497C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43625950
chr22:43626043 GTATGTAT
others(11): Show 
GTATGTATGTGTGTATATA
 G
G
 2 a0001c0001t0001g0190
a0001c0035t0001g0235
a0001c0001t0001g0190
a0001c0035t0001g0235
 2 HG02040.hp1
NA18951.hp2
HG02040.hp1
NA18951.hp2
 intron_variant MODIFIER c.2465+386_2465+403d
others(20): Show 
c.2465+386_2465+403delTATATACACACATACATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43626043
chr22:43626048 T
T
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.2465+399A>G
c.2465+399A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43626048
chr22:43626251 G
G
 A
A
 17 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 17 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(14): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2465+196C>T
c.2465+196C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43626251
chr22:43626291 G
G
 A
A
 228 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(225): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0141
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 228 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(225): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+156C>T
c.2465+156C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43626291
chr22:43626295 A
A
 C
C
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2465+152T>G
c.2465+152T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43626295
chr22:43626327 A
A
 G
G
 82 a0001c0001t0001g0041
a0001c0001t0001g0153
a0001c0013t0001g0187
others(79): Show 
a0001c0001t0001g0041
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0030c0032t0001g0126
a0032c0042t0001g0275
 82 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(79): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2465+120T>C
c.2465+120T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43626327
chr22:43626398 G
G
 A
A
 1 a0008c0008t0001g0026
a0008c0008t0001g0026
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.2465+49C>T
c.2465+49C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 20/31 chr22 43626398
chr22:43626698 C
C
 A
A
 92 a0001c0001t0001g0041
a0001c0001t0001g0153
a0001c0013t0001g0187
others(89): Show 
a0001c0001t0001g0041
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0030c0032t0001g0126
a0032c0042t0001g0275
 92 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(89): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2233-19G>T
c.2233-19G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43626698
chr22:43626785 T
T
 G
G
 2 a0005c0004t0001g0107
a0005c0004t0001g0127
a0005c0004t0001g0107
a0005c0004t0001g0127
 2 HG03491.hp1
HG03669.hp2
HG03491.hp1
HG03669.hp2
 intron_variant MODIFIER c.2233-106A>C
c.2233-106A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43626785
chr22:43626925 A
A
 G
G
 1 a0002c0002t0001g0123
a0002c0002t0001g0123
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.2233-246T>C
c.2233-246T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43626925
chr22:43627211 C
C
 T
T
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.2233-532G>A
c.2233-532G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43627211
chr22:43627246 C
C
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2233-567G>A
c.2233-567G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43627246
chr22:43627293 G
G
 A
A
 65 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(62): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
 65 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(62): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.2233-614C>T
c.2233-614C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43627293
chr22:43627815 T
T
 G
G
 93 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0153
others(90): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 93 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(90): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2233-1136A>C
c.2233-1136A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43627815
chr22:43628028 G
G
 A
A
 3 a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
 3 HG01175.hp2
HG02293.hp2
HG02818.hp2
HG01175.hp2
HG02293.hp2
HG02818.hp2
 intron_variant MODIFIER c.2233-1349C>T
c.2233-1349C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43628028
chr22:43628086 C
C
 G
G
 5 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(2): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
 5 HG01243.hp1
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01243.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.2233-1407G>C
c.2233-1407G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43628086
chr22:43628183 C
C
 G
G
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.2233-1504G>C
c.2233-1504G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43628183
chr22:43628357 C
C
 T
T
 2 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0096
a0010c0011t0001g0098
 2 HG00099.hp1
HG01496.hp2
HG00099.hp1
HG01496.hp2
 intron_variant MODIFIER c.2233-1678G>A
c.2233-1678G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43628357
chr22:43628421 G
G
 A
A
 1 a0003c0003t0001g0215
a0003c0003t0001g0215
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.2233-1742C>T
c.2233-1742C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43628421
chr22:43628501 G
G
 A
A
 46 a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0242
others(43): Show 
a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
 46 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(43): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp2
HG02074.hp1
HG02135.hp1
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG04199.hp2
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.2233-1822C>T
c.2233-1822C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43628501
chr22:43628945 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2233-2266C>T
c.2233-2266C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43628945
chr22:43629015 C
C
 G
G
 1 a0003c0003t0001g0223
a0003c0003t0001g0223
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.2233-2336G>C
c.2233-2336G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629015
chr22:43629037 G
G
 T
T
 42 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(39): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2233-2358C>A
c.2233-2358C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629037
chr22:43629112 T
T
 C
C
 17 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 17 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(14): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2233-2433A>G
c.2233-2433A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629112
chr22:43629326 ACTAGAGG
others(23): Show 
ACTAGAGGTGTGGCTTTGTGTCACTTTTTCC
 A
A
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.2233-2677_2233-264
others(34): Show 
c.2233-2677_2233-2648delGGAAAAAGTGACACAAAGCCACACCT
CTAG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629326
chr22:43629408 T
T
 C
C
 11 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(8): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 11 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(8): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03139.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.2232+2697A>G
c.2232+2697A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629408
chr22:43629524 T
T
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2232+2581A>T
c.2232+2581A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629524
chr22:43629587 G
G
 A
A
 1 a0005c0020t0001g0161
a0005c0020t0001g0161
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2232+2518C>T
c.2232+2518C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629587
chr22:43629734 G
G
 A
A
 1 a0003c0003t0001g0183
a0003c0003t0001g0183
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.2232+2371C>T
c.2232+2371C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629734
chr22:43629784 G
G
 A
A
 1 a0003c0003t0001g0220
a0003c0003t0001g0220
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.2232+2321C>T
c.2232+2321C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43629784
chr22:43630114 C
C
 T
T
 2 a0001c0001t0001g0195
a0001c0001t0001g0239
a0001c0001t0001g0195
a0001c0001t0001g0239
 2 HG01255.hp2
HG02109.hp2
HG01255.hp2
HG02109.hp2
 intron_variant MODIFIER c.2232+1991G>A
c.2232+1991G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630114
chr22:43630148 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2232+1957T>C
c.2232+1957T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630148
chr22:43630231 G
G
 A
A
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
 13 HG01175.hp2
HG02293.hp2
HG02818.hp2
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2232+1874C>T
c.2232+1874C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630231
chr22:43630245 C
C
 T
T
 42 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(39): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2232+1860G>A
c.2232+1860G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630245
chr22:43630474 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.2232+1631G>A
c.2232+1631G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630474
chr22:43630584 A
A
 G
G
 1 a0002c0002t0001g0133
a0002c0002t0001g0133
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.2232+1521T>C
c.2232+1521T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630584
chr22:43630684 G
G
 A
A
 42 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(39): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2232+1421C>T
c.2232+1421C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630684
chr22:43630780 C
C
 T
T
 42 a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
others(39): Show 
a0001c0001t0001g0041
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2232+1325G>A
c.2232+1325G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630780
chr22:43630831 G
G
 A
A
 16 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(13): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 16 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(13): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2232+1274C>T
c.2232+1274C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630831
chr22:43630854 ATTAGGAC
others(1102): Show 
ATTAGGACCAATCCGTCTCCATGTATGCATATGGCGATCATATTTTTTCA
AACCAAAAATTAGGATGCACATTCTGAAAACTGGACAGAATGTTCAAAAT
CTGAGCCCTGCTAGAAAGTCTAAGCTGGACTGATGTCATAAATACACGGG
CATGTGGAAACGGGAGCCTGGTAACCAAAATGAATCTCCAGGGGTGATCA
GTCTGGGGAGGTGCCTCAGAGCACAGGAAATGGGGTGTTGCCCTCCCCAC
AGCCCCCCAGGCTGCTCTGATACCCAGTCTCTCGCCCGTCCCTTCCCTTC
TGGACTTCACCCATCTCCATTCTGCCTCTGGATGTGTTCCCTCCACCCAC
GGGGTGAGGATGCAGTCTAACTCCCTGATACCCTCGGCCCTGTCTCGGGG
TTCGCCTTATTGACTTGATCGCCCTAACTTTATTCACCCTCTTTTACTTC
TCATCACAAAAAGAGCTCAGATCATCTTGTACTGGCCTCTATGTTTGAAT
GGCTGCTGTCTACTTCTGTTTTGTCTGTTACAACTTGCACGCGCCACGCA
CACCTCCACCACGACAAGCCACATGCTTTTCCCCAGAGCCCATGCCTCAT
CTGTCCCGGCCTGGCTCAGGCTGCCTCATCTATGGCTCCCTCCTTTCCTG
GCCAGCCCAGGCTTAGGCCTTACGATTCAGTGTGGGGGCCACCTCCTCCA
GGGAGTCCTCCTTAAAGGGATCTTTTCCTTGTGCCTCCAGAGGATGCTCC
AGTTCCTTCGACAACAGCCAATTACTATGAATATGACTTGTCTGTTTACC
ATCTGTGTCTGGGATTAGACCGAGCTCCCTGGGGTGGGGCTGGTAGCTTT
CATCCCCAGCATTTAGCACAGATTCTAGCACATAGTAAGTGTATAACACT
TGTTTGGTGGGTGAATGGATGAGGGAATCAATGAGGGAATGGATGAACGC
GTTTCAAAGTCACTGTACCATGGGTTGTCATGCTTCTTCTCCACCAACAT
CCACCTCTTGTCAAAAGGGTCTCCTTAGCCTTCTGCCAGCAAAGTGTCCA
CGGGGGTCCCTCAGGGAGGGAGGAAGCCCCATCCTCCCCACATGCCTCTC
CCTGACCAAT
 A
A
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2232+142_2232+1250
others(3): Show 
c.2232+142_2232+1250del
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43630854
chr22:43631134 C
C
 T
T
 10 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(7): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 10 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(7): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
 intron_variant MODIFIER c.2232+971G>A
c.2232+971G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631134
chr22:43631136 C
C
 T
T
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.2232+969G>A
c.2232+969G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631136
chr22:43631214 T
T
 C
C
 93 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0153
others(90): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 93 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(90): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2232+891A>G
c.2232+891A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631214
chr22:43631336 T
T
 C
C
 93 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0153
others(90): Show 
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0005c0004t0001g0093
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 93 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(90): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2232+769A>G
c.2232+769A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631336
chr22:43631401 G
G
 A
A
 1 a0002c0002t0001g0139
a0002c0002t0001g0139
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2232+704C>T
c.2232+704C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631401
chr22:43631608 C
C
 G
G
 19 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(16): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0023c0034t0001g0082
a0031c0022t0001g0237
 19 HG01175.hp2
HG02055.hp2
HG02293.hp2
others(16): Show 
HG01175.hp2
HG02055.hp2
HG02293.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03195.hp2
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2232+497G>C
c.2232+497G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631608
chr22:43631613 G
G
 A
A
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2232+492C>T
c.2232+492C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631613
chr22:43631669 T
T
 C
C
 6 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0270
others(3): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0032c0042t0001g0275
 6 HG01243.hp2
HG02257.hp2
HG02922.hp1
others(3): Show 
HG01243.hp2
HG02257.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03486.hp2
 intron_variant MODIFIER c.2232+436A>G
c.2232+436A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631669
chr22:43631801 C
C
 T
T
 1 a0004c0005t0001g0162
a0004c0005t0001g0162
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.2232+304G>A
c.2232+304G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631801
chr22:43631965 C
C
 A
A
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2232+140G>T
c.2232+140G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43631965
chr22:43632084 C
C
 A
A
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2232+21G>T
c.2232+21G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43632084
chr22:43632084 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2232+21G>A
c.2232+21G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43632084
chr22:43632085 G
G
 A
A
 17 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 17 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(14): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2232+20C>T
c.2232+20C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 19/31 chr22 43632085
chr22:43632291 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2099-53G>A
c.2099-53G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632291
chr22:43632294 C
C
 CT
CT
 41 a0001c0001t0001g0041
a0001c0001t0001g0064
a0001c0001t0001g0076
others(38): Show 
a0001c0001t0001g0041
a0001c0001t0001g0064
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0004c0012t0001g0094
a0004c0012t0001g0095
a0005c0004t0001g0127
a0008c0008t0001g0035
a0021c0036t0001g0138
a0023c0034t0001g0082
a0026c0028t0003g0003
a0031c0022t0001g0237
 41 HG01175.hp2
HG02055.hp2
HG02145.hp2
others(38): Show 
HG01175.hp2
HG02055.hp2
HG02145.hp2
HG02293.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA19009.hp1
NA19011.hp2
NA19043.hp1
NA19066.hp1
NA19077.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2099-57dupA
c.2099-57dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632294
chr22:43632294 C
C
 CTTT
CTTT
 26 a0001c0013t0001g0187
a0003c0003t0001g0186
a0006c0006t0001g0163
others(23): Show 
a0001c0013t0001g0187
a0003c0003t0001g0186
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0160
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0032c0042t0001g0275
 26 HG00140.hp2
HG00639.hp2
HG01243.hp2
others(23): Show 
HG00140.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02630.hp1
HG02683.hp1
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
NA18954.hp1
NA19080.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2099-59_2099-57dup
others(3): Show 
c.2099-59_2099-57dupAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632294
chr22:43632294 C
C
 CTTTT
CTTTT
 36 a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
others(33): Show 
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0211
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0014t0002g0015
a0007c0014t0005g0014
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0030c0032t0001g0126
 36 HG00280.hp1
HG00597.hp1
HG01081.hp1
others(33): Show 
HG00280.hp1
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01257.hp1
HG01516.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG03209.hp2
HG03654.hp2
HG04228.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
 intron_variant MODIFIER c.2099-60_2099-57dup
others(4): Show 
c.2099-60_2099-57dupAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632294
chr22:43632294 C
C
 CTTTTT
CTTTTT
 12 a0001c0001t0001g0153
a0002c0002t0001g0141
a0003c0003t0001g0212
others(9): Show 
a0001c0001t0001g0153
a0002c0002t0001g0141
a0003c0003t0001g0212
a0003c0003t0001g0215
a0003c0003t0001g0217
a0003c0003t0001g0228
a0003c0003t0001g0232
a0003c0003t0001g0284
a0007c0007t0002g0005
a0007c0014t0002g0016
a0007c0014t0002g0018
a0022c0039t0001g0091
 12 HG00438.hp2
HG01074.hp1
HG01243.hp1
others(9): Show 
HG00438.hp2
HG01074.hp1
HG01243.hp1
HG01255.hp1
HG01517.hp1
HG02109.hp1
HG03139.hp2
HG03516.hp1
HG03669.hp1
HG03942.hp2
NA18522.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2099-61_2099-57dup
others(5): Show 
c.2099-61_2099-57dupAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632294
chr22:43632294 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 33 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(30): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0020c0048t0001g0177
 33 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(30): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp2
HG02074.hp1
HG02135.hp1
HG02280.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.2099-66_2099-57del
others(10): Show 
c.2099-66_2099-57delAAAAAAAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632294
chr22:43632310 T
T
 TTG
TTG
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0027c0030t0009g0290
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.2099-73_2099-72ins
others(2): Show 
c.2099-73_2099-72insCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632310
chr22:43632321 C
C
 T
T
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.2099-83G>A
c.2099-83G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632321
chr22:43632322 G
G
 A
A
 21 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(18): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0032c0042t0001g0275
 21 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(18): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.2099-84C>T
c.2099-84C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632322
chr22:43632440 T
T
 C
C
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.2099-202A>G
c.2099-202A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632440
chr22:43632516 T
T
 C
C
 1 a0005c0004t0001g0109
a0005c0004t0001g0109
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.2099-278A>G
c.2099-278A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632516
chr22:43632596 G
G
 A
A
 1 a0004c0009t0001g0176
a0004c0009t0001g0176
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.2099-358C>T
c.2099-358C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632596
chr22:43632616 A
A
 G
G
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.2099-378T>C
c.2099-378T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632616
chr22:43632754 C
C
 CT
CT
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2099-517_2099-516i
others(3): Show 
c.2099-517_2099-516insA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632754
chr22:43632797 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2099-559G>A
c.2099-559G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632797
chr22:43632984 G
G
 T
T
 1 a0001c0046t0001g0067
a0001c0046t0001g0067
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.2099-746C>A
c.2099-746C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43632984
chr22:43633097 G
G
 T
T
 17 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0022c0039t0001g0091
a0030c0032t0001g0126
 17 HG01243.hp1
HG01496.hp1
HG02109.hp1
others(14): Show 
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2099-859C>A
c.2099-859C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633097
chr22:43633108 C
C
 T
T
 1 a0004c0012t0001g0094
a0004c0012t0001g0094
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.2099-870G>A
c.2099-870G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633108
chr22:43633216 C
C
 T
T
 1 a0003c0003t0001g0228
a0003c0003t0001g0228
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2099-978G>A
c.2099-978G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633216
chr22:43633218 C
C
 T
T
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2099-980G>A
c.2099-980G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633218
chr22:43633282 G
G
 A
A
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0031c0022t0001g0237
 15 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2099-1044C>T
c.2099-1044C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633282
chr22:43633360 C
C
 T
T
 1 a0004c0005t0001g0021
a0004c0005t0001g0021
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.2099-1122G>A
c.2099-1122G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633360
chr22:43633473 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2099-1235T>C
c.2099-1235T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633473
chr22:43633480 T
T
 C
C
 160 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(157): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0002c0002t0001g0120
a0002c0002t0001g0141
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 160 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(157): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2099-1242A>G
c.2099-1242A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633480
chr22:43633572 A
A
 T
T
 1 a0012c0016t0006g0266
a0012c0016t0006g0266
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.2099-1334T>A
c.2099-1334T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633572
chr22:43633615 A
A
 T
T
 60 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(57): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
 60 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(57): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp2
HG02055.hp1
HG02074.hp1
HG02135.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.2099-1377T>A
c.2099-1377T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633615
chr22:43633764 G
G
 A
A
 3 a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
 3 HG01515.hp2
HG01517.hp2
HG02300.hp1
HG01515.hp2
HG01517.hp2
HG02300.hp1
 intron_variant MODIFIER c.2098+1338C>T
c.2098+1338C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633764
chr22:43633849 T
T
 C
C
 1 a0007c0014t0002g0017
a0007c0014t0002g0017
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2098+1253A>G
c.2098+1253A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633849
chr22:43633852 T
T
 A
A
 1 a0003c0003t0001g0217
a0003c0003t0001g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.2098+1250A>T
c.2098+1250A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633852
chr22:43633876 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2098+1226G>A
c.2098+1226G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43633876
chr22:43634089 A
A
 T
T
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.2098+1013T>A
c.2098+1013T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634089
chr22:43634301 T
T
 A
A
 1 a0012c0016t0001g0274
a0012c0016t0001g0274
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.2098+801A>T
c.2098+801A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634301
chr22:43634315 A
A
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2098+787T>G
c.2098+787T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634315
chr22:43634332 C
C
 T
T
 19 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(16): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0023c0034t0001g0082
a0031c0022t0001g0237
 19 HG01175.hp2
HG02055.hp2
HG02293.hp2
others(16): Show 
HG01175.hp2
HG02055.hp2
HG02293.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03195.hp2
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2098+770G>A
c.2098+770G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634332
chr22:43634343 C
C
 T
T
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.2098+759G>A
c.2098+759G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634343
chr22:43634478 A
A
 G
G
 150 a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
others(147): Show 
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0236
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0046t0001g0067
a0002c0002t0001g0120
a0002c0002t0001g0141
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0036
a0008c0008t0001g0038
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 150 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(147): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18941.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2098+624T>C
c.2098+624T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634478
chr22:43634665 C
C
 G
G
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2098+437G>C
c.2098+437G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634665
chr22:43634707 T
T
 G
G
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2098+395A>C
c.2098+395A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634707
chr22:43634820 G
G
 A
A
 2 a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0078
a0001c0001t0001g0081
 2 NA18939.hp1
NA18942.hp2
NA18939.hp1
NA18942.hp2
 intron_variant MODIFIER c.2098+282C>T
c.2098+282C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634820
chr22:43634932 T
T
 C
C
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.2098+170A>G
c.2098+170A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43634932
chr22:43635055 G
G
 A
A
 4 a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
others(1): Show 
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
 4 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(1): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG02683.hp2
 intron_variant MODIFIER c.2098+47C>T
c.2098+47C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 18/31 chr22 43635055
chr22:43635234 G
G
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.1984-18C>T
c.1984-18C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635234
chr22:43635263 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-47C>T
c.1984-47C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635263
chr22:43635359 G
G
 A
A
 18 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(15): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 18 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(15): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA20805.hp2
 intron_variant MODIFIER c.1984-143C>T
c.1984-143C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635359
chr22:43635670 G
G
 C
C
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.1984-454C>G
c.1984-454C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635670
chr22:43635844 C
C
 T
T
 2 a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0041
a0001c0001t0001g0047
 2 NA18946.hp2
NA19077.hp1
NA18946.hp2
NA19077.hp1
 intron_variant MODIFIER c.1984-628G>A
c.1984-628G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635844
chr22:43635876 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1984-660C>T
c.1984-660C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635876
chr22:43635975 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-759G>A
c.1984-759G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635975
chr22:43635998 A
A
 G
G
 10 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0023c0034t0001g0082
a0029c0031t0002g0012
 10 HG01433.hp1
HG02055.hp1
HG02572.hp2
others(7): Show 
HG01433.hp1
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG06807.hp1
 intron_variant MODIFIER c.1984-782T>C
c.1984-782T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43635998
chr22:43636008 T
T
 A
A
 1 a0001c0046t0001g0067
a0001c0046t0001g0067
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1984-792A>T
c.1984-792A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636008
chr22:43636190 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1984-974A>G
c.1984-974A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636190
chr22:43636193 T
T
 G
G
 18 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(15): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0030c0032t0001g0126
 18 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(15): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1984-977A>C
c.1984-977A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636193
chr22:43636247 ACAGATGT
others(3): Show 
ACAGATGTCAC
 A
A
 10 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
others(7): Show 
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
 10 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(7): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02976.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp2
 intron_variant MODIFIER c.1984-1041_1984-103
others(14): Show 
c.1984-1041_1984-1032delGTGACATCTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636247
chr22:43636275 T
T
 A
A
 1 a0002c0021t0001g0179
a0002c0021t0001g0179
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1984-1059A>T
c.1984-1059A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636275
chr22:43636479 A
A
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1984-1263T>A
c.1984-1263T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636479
chr22:43636577 T
T
 TGGCAGAC
others(1): Show 
TGGCAGACC
 18 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(15): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0030c0032t0001g0126
 18 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(15): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1984-1369_1984-136
others(12): Show 
c.1984-1369_1984-1362dupGGTCTGCC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636577
chr22:43636609 C
C
 CT
CT
 29 a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0059
others(26): Show 
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0145
a0002c0002t0001g0146
a0003c0003t0008g0287
a0004c0005t0001g0252
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0009c0010t0001g0150
a0009c0010t0001g0286
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0027c0030t0009g0290
a0029c0031t0002g0012
 29 HG00621.hp1
HG01257.hp2
HG01258.hp1
others(26): Show 
HG00621.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18947.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18972.hp1
NA19000.hp1
NA19000.hp2
NA19081.hp2
 intron_variant MODIFIER c.1984-1394dupA
c.1984-1394dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636609
chr22:43636609 CT
CT
 C
C
 8 a0002c0002t0001g0123
a0003c0003t0001g0219
a0003c0003t0001g0226
others(5): Show 
a0002c0002t0001g0123
a0003c0003t0001g0219
a0003c0003t0001g0226
a0004c0005t0001g0175
a0004c0005t0001g0248
a0005c0004t0001g0107
a0005c0004t0001g0135
a0007c0007t0001g0154
 8 HG00323.hp1
HG02735.hp2
HG02897.hp2
others(5): Show 
HG00323.hp1
HG02735.hp2
HG02897.hp2
HG02976.hp1
HG03491.hp1
NA19060.hp1
NA19077.hp2
NA20905.hp1
 intron_variant MODIFIER c.1984-1394delA
c.1984-1394delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636609
chr22:43636614 T
T
 C
C
 2 a0002c0002t0001g0264
a0005c0004t0001g0103
a0002c0002t0001g0264
a0005c0004t0001g0103
 2 HG02922.hp2
NA19070.hp1
HG02922.hp2
NA19070.hp1
 intron_variant MODIFIER c.1984-1398A>G
c.1984-1398A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636614
chr22:43636668 C
C
 T
T
 1 a0004c0005t0001g0252
a0004c0005t0001g0252
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1984-1452G>A
c.1984-1452G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636668
chr22:43636702 C
C
 T
T
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.1984-1486G>A
c.1984-1486G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43636702
chr22:43637057 C
C
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-1841G>T
c.1984-1841G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637057
chr22:43637159 T
T
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.1984-1943A>T
c.1984-1943A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637159
chr22:43637293 C
C
 T
T
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-2077G>A
c.1984-2077G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637293
chr22:43637294 G
G
 A
A
 2 a0001c0001t0001g0087
a0023c0034t0001g0082
a0001c0001t0001g0087
a0023c0034t0001g0082
 2 HG01433.hp1
HG03195.hp2
HG01433.hp1
HG03195.hp2
 intron_variant MODIFIER c.1984-2078C>T
c.1984-2078C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637294
chr22:43637298 T
T
 C
C
 183 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(180): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 183 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(180): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-2082A>G
c.1984-2082A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637298
chr22:43637398 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-2182C>T
c.1984-2182C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637398
chr22:43637430 A
A
 G
G
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1984-2214T>C
c.1984-2214T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637430
chr22:43637467 C
C
 T
T
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1984-2251G>A
c.1984-2251G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637467
chr22:43637514 C
C
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1984-2298G>T
c.1984-2298G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637514
chr22:43637581 A
A
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-2365T>C
c.1984-2365T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637581
chr22:43637600 G
G
 A
A
 12 a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
others(9): Show 
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
 12 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(9): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG02683.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1984-2384C>T
c.1984-2384C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637600
chr22:43637610 A
A
 G
G
 183 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(180): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 183 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(180): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-2394T>C
c.1984-2394T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637610
chr22:43637623 G
G
 A
A
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1984-2407C>T
c.1984-2407C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43637623
chr22:43638042 C
C
 T
T
 3 a0004c0005t0001g0175
a0014c0017t0001g0282
a0014c0017t0001g0283
a0004c0005t0001g0175
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG03491.hp2
HG03492.hp1
NA20905.hp1
HG03491.hp2
HG03492.hp1
NA20905.hp1
 intron_variant MODIFIER c.1984-2826G>A
c.1984-2826G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638042
chr22:43638046 C
C
 G
G
 1 a0003c0003t0001g0223
a0003c0003t0001g0223
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.1984-2830G>C
c.1984-2830G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638046
chr22:43638054 C
C
 T
T
 81 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(78): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0250
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 81 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(78): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-2838G>A
c.1984-2838G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638054
chr22:43638171 C
C
 T
T
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1984-2955G>A
c.1984-2955G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638171
chr22:43638221 T
T
 G
G
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1984-3005A>C
c.1984-3005A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638221
chr22:43638257 C
C
 A
A
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.1984-3041G>T
c.1984-3041G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638257
chr22:43638361 A
A
 T
T
 77 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(74): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 77 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(74): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-3145T>A
c.1984-3145T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638361
chr22:43638469 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-3253G>A
c.1984-3253G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638469
chr22:43638575 G
G
 A
A
 1 a0005c0004t0001g0136
a0005c0004t0001g0136
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1984-3359C>T
c.1984-3359C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638575
chr22:43638646 T
T
 C
C
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-3430A>G
c.1984-3430A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638646
chr22:43638817 C
C
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-3601G>A
c.1984-3601G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638817
chr22:43638855 G
G
 A
A
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.1984-3639C>T
c.1984-3639C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638855
chr22:43638896 C
C
 T
T
 1 a0004c0005t0001g0249
a0004c0005t0001g0249
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1984-3680G>A
c.1984-3680G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638896
chr22:43638986 T
T
 C
C
 91 a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
others(88): Show 
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 91 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(88): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-3770A>G
c.1984-3770A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638986
chr22:43638987 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1984-3771C>T
c.1984-3771C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638987
chr22:43638996 G
G
 A
A
 3 a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 3 HG01243.hp1
HG02630.hp1
NA20129.hp1
HG01243.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.1984-3780C>T
c.1984-3780C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43638996
chr22:43639423 G
G
 A
A
 77 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(74): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 77 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(74): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-4207C>T
c.1984-4207C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43639423
chr22:43639486 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1984-4270G>A
c.1984-4270G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43639486
chr22:43639678 T
T
 C
C
 183 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(180): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 183 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(180): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-4462A>G
c.1984-4462A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43639678
chr22:43639775 A
A
 G
G
 1 a0006c0006t0001g0163
a0006c0006t0001g0163
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1984-4559T>C
c.1984-4559T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43639775
chr22:43639926 G
G
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-4710C>G
c.1984-4710C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43639926
chr22:43640074 T
T
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1984-4858A>C
c.1984-4858A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640074
chr22:43640084 G
G
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-4868C>A
c.1984-4868C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640084
chr22:43640121 G
G
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1984-4905C>G
c.1984-4905C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640121
chr22:43640133 G
G
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-4917C>G
c.1984-4917C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640133
chr22:43640215 T
T
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-4999A>G
c.1984-4999A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640215
chr22:43640259 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-5043G>A
c.1984-5043G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640259
chr22:43640528 A
A
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-5312T>A
c.1984-5312T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640528
chr22:43640621 C
C
 A
A
 1 a0005c0004t0001g0105
a0005c0004t0001g0105
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1984-5405G>T
c.1984-5405G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640621
chr22:43640674 C
C
 T
T
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1984-5458G>A
c.1984-5458G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640674
chr22:43640980 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-5764C>T
c.1984-5764C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43640980
chr22:43641125 G
G
 C
C
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1984-5909C>G
c.1984-5909C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641125
chr22:43641184 C
C
 A
A
 112 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(109): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0026c0028t0003g0003
a0031c0022t0001g0237
a0032c0042t0001g0275
 112 HG00140.hp2
HG00280.hp2
HG00323.hp2
others(109): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1984-5968G>T
c.1984-5968G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641184
chr22:43641192 C
C
 T
T
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1984-5976G>A
c.1984-5976G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641192
chr22:43641616 C
C
 CA
CA
 58 a0001c0001t0001g0053
a0001c0001t0001g0258
a0001c0013t0001g0187
others(55): Show 
a0001c0001t0001g0053
a0001c0001t0001g0258
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0046t0001g0067
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0209
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0009c0010t0001g0148
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0021c0036t0001g0138
a0028c0041t0001g0189
a0031c0022t0001g0237
 58 HG00280.hp1
HG00438.hp2
HG00597.hp1
others(55): Show 
HG00280.hp1
HG00438.hp2
HG00597.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp2
NA18950.hp2
NA18961.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-6401dupT
c.1984-6401dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641616
chr22:43641616 C
C
 CAA
CAA
 91 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(88): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0047t0001g0178
a0003c0003t0001g0207
a0003c0003t0001g0210
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0019c0043t0001g0224
a0023c0034t0001g0082
a0026c0028t0003g0003
 91 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(88): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.1984-6402_1984-640
others(6): Show 
c.1984-6402_1984-6401dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641616
chr22:43641616 C
C
 CAAA
CAAA
 13 a0001c0001t0001g0029
a0007c0007t0001g0154
a0007c0007t0001g0155
others(10): Show 
a0001c0001t0001g0029
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 13 HG01243.hp1
HG02109.hp1
HG02572.hp1
others(10): Show 
HG01243.hp1
HG02109.hp1
HG02572.hp1
HG02630.hp1
HG02895.hp1
HG02897.hp2
HG03139.hp2
HG03516.hp1
NA18906.hp1
NA18947.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1984-6403_1984-640
others(7): Show 
c.1984-6403_1984-6401dupTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641616
chr22:43641616 C
C
 CAAAA
CAAAA
 6 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(3): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0030c0032t0001g0126
 6 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(3): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.1984-6404_1984-640
others(8): Show 
c.1984-6404_1984-6401dupTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641616
chr22:43641669 G
G
 GA
GA
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-6454dupT
c.1984-6454dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641669
chr22:43641683 T
T
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1984-6467A>T
c.1984-6467A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641683
chr22:43641702 A
A
 G
G
 183 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(180): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 183 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(180): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-6486T>C
c.1984-6486T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641702
chr22:43641785 C
C
 T
T
 1 a0003c0003t0001g0232
a0003c0003t0001g0232
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1984-6569G>A
c.1984-6569G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641785
chr22:43641811 A
A
 G
G
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1984-6595T>C
c.1984-6595T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43641811
chr22:43642004 A
A
 C
C
 1 a0002c0002t0001g0140
a0002c0002t0001g0140
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1984-6788T>G
c.1984-6788T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642004
chr22:43642057 CA
CA
 C
C
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-6842delT
c.1984-6842delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642057
chr22:43642075 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-6859C>T
c.1984-6859C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642075
chr22:43642090 C
C
 T
T
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.1984-6874G>A
c.1984-6874G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642090
chr22:43642142 T
T
 C
C
 3 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0013
 3 HG02615.hp2
HG02809.hp2
HG03139.hp1
HG02615.hp2
HG02809.hp2
HG03139.hp1
 intron_variant MODIFIER c.1984-6926A>G
c.1984-6926A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642142
chr22:43642164 C
C
 A
A
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-6948G>T
c.1984-6948G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642164
chr22:43642172 C
C
 T
T
 1 a0004c0009t0001g0167
a0004c0009t0001g0167
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1984-6956G>A
c.1984-6956G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642172
chr22:43642188 G
G
 A
A
 1 a0003c0003t0001g0227
a0003c0003t0001g0227
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1984-6972C>T
c.1984-6972C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642188
chr22:43642193 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1984-6977C>T
c.1984-6977C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642193
chr22:43642421 G
G
 T
T
 6 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(3): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
 6 NA18950.hp2
NA18979.hp1
NA19060.hp2
others(3): Show 
NA18950.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.1984-7205C>A
c.1984-7205C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642421
chr22:43642638 G
G
 A
A
 183 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(180): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 183 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(180): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-7422C>T
c.1984-7422C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642638
chr22:43642778 T
T
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1984-7562A>T
c.1984-7562A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642778
chr22:43642784 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1984-7568G>A
c.1984-7568G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642784
chr22:43642835 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1984-7619G>A
c.1984-7619G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642835
chr22:43642845 G
G
 A
A
 1 a0002c0002t0001g0123
a0002c0002t0001g0123
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1984-7629C>T
c.1984-7629C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642845
chr22:43642929 G
G
 C
C
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1984-7713C>G
c.1984-7713C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43642929
chr22:43643045 G
G
 A
A
 1 a0001c0001t0001g0239
a0001c0001t0001g0239
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1984-7829C>T
c.1984-7829C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643045
chr22:43643285 G
G
 GACACAAG
others(4): Show 
GACACAAGTGGT
 1 a0019c0043t0001g0224
a0019c0043t0001g0224
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1984-8080_1984-807
others(15): Show 
c.1984-8080_1984-8070dupACCACTTGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643285
chr22:43643320 C
C
 T
T
 17 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(14): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0023c0034t0001g0082
a0030c0032t0001g0126
 17 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(14): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1984-8104G>A
c.1984-8104G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643320
chr22:43643350 T
T
 C
C
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.1984-8134A>G
c.1984-8134A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643350
chr22:43643405 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-8189G>A
c.1984-8189G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643405
chr22:43643454 C
C
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-8238G>A
c.1984-8238G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643454
chr22:43643477 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-8261C>T
c.1984-8261C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643477
chr22:43643490 C
C
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1984-8274G>A
c.1984-8274G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643490
chr22:43643518 C
C
 T
T
 33 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(30): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0032c0042t0001g0275
 33 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(30): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03453.hp1
HG03486.hp2
HG03579.hp1
HG06807.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1984-8302G>A
c.1984-8302G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643518
chr22:43643622 C
C
 A
A
 1 a0015c0024t0001g0128
a0015c0024t0001g0128
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1984-8406G>T
c.1984-8406G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643622
chr22:43643690 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1984-8474G>A
c.1984-8474G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643690
chr22:43643751 A
A
 T
T
 2 a0002c0002t0001g0111
a0002c0002t0004g0289
a0002c0002t0001g0111
a0002c0002t0004g0289
 2 HG03041.hp1
HG03130.hp1
HG03041.hp1
HG03130.hp1
 intron_variant MODIFIER c.1984-8535T>A
c.1984-8535T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643751
chr22:43643854 C
C
 T
T
 2 a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0019t0001g0124
a0002c0019t0001g0125
 2 HG01934.hp1
HG02280.hp2
HG01934.hp1
HG02280.hp2
 intron_variant MODIFIER c.1984-8638G>A
c.1984-8638G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643854
chr22:43643968 C
C
 T
T
 20 a0005c0004t0001g0109
a0006c0006t0001g0163
a0006c0006t0001g0257
others(17): Show 
a0005c0004t0001g0109
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 20 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(17): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18944.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1984-8752G>A
c.1984-8752G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43643968
chr22:43644013 G
G
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1984-8797C>A
c.1984-8797C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43644013
chr22:43644238 C
C
 T
T
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1984-9022G>A
c.1984-9022G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43644238
chr22:43644357 G
G
 C
C
 3 a0006c0006t0001g0265
a0006c0006t0001g0279
a0006c0006t0001g0280
a0006c0006t0001g0265
a0006c0006t0001g0279
a0006c0006t0001g0280
 3 HG00323.hp2
HG02004.hp1
HG02293.hp1
HG00323.hp2
HG02004.hp1
HG02293.hp1
 intron_variant MODIFIER c.1984-9141C>G
c.1984-9141C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43644357
chr22:43644532 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1984-9316G>A
c.1984-9316G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43644532
chr22:43644638 A
A
 G
G
 5 a0001c0001t0001g0258
a0001c0046t0001g0067
a0013c0018t0001g0090
others(2): Show 
a0001c0001t0001g0258
a0001c0046t0001g0067
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 5 HG01243.hp1
HG02055.hp2
HG02630.hp1
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02630.hp1
HG02886.hp1
NA20129.hp1
 intron_variant MODIFIER c.1984-9422T>C
c.1984-9422T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43644638
chr22:43644832 C
C
 G
G
 47 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(44): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0032c0042t0001g0275
 47 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(44): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1984-9616G>C
c.1984-9616G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43644832
chr22:43645124 T
T
 C
C
 72 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(69): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
 72 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(69): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01496.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-9908A>G
c.1984-9908A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645124
chr22:43645297 T
T
 C
C
 1 a0018c0044t0001g0221
a0018c0044t0001g0221
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1984-10081A>G
c.1984-10081A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645297
chr22:43645337 A
A
 G
G
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1984-10121T>C
c.1984-10121T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645337
chr22:43645352 C
C
 T
T
 2 a0001c0001t0001g0258
a0001c0046t0001g0067
a0001c0001t0001g0258
a0001c0046t0001g0067
 2 HG02055.hp2
HG02886.hp1
HG02055.hp2
HG02886.hp1
 intron_variant MODIFIER c.1984-10136G>A
c.1984-10136G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645352
chr22:43645359 C
C
 T
T
 1 a0001c0013t0001g0208
a0001c0013t0001g0208
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1984-10143G>A
c.1984-10143G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645359
chr22:43645852 T
T
 TA
TA
 8 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0285
others(5): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0285
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 8 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(5): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01175.hp2
HG01496.hp2
HG01516.hp2
NA18947.hp1
NA18965.hp1
 intron_variant MODIFIER c.1984-10637dupT
c.1984-10637dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645852
chr22:43645858 A
A
 AAC
AAC
 103 a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
others(100): Show 
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 103 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(100): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-10643_1984-10
others(8): Show 
c.1984-10643_1984-10642insGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645858
chr22:43645864 C
C
 A
A
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-10648G>T
c.1984-10648G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645864
chr22:43645905 A
A
 C
C
 1 a0019c0043t0001g0224
a0019c0043t0001g0224
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1984-10689T>G
c.1984-10689T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645905
chr22:43645906 C
C
 A
A
 1 a0019c0043t0001g0224
a0019c0043t0001g0224
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1984-10690G>T
c.1984-10690G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645906
chr22:43645908 T
T
 C
C
 1 a0019c0043t0001g0224
a0019c0043t0001g0224
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1984-10692A>G
c.1984-10692A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43645908
chr22:43646092 C
C
 T
T
 2 a0005c0004t0001g0103
a0005c0004t0001g0106
a0005c0004t0001g0103
a0005c0004t0001g0106
 2 NA19070.hp1
NA19091.hp1
NA19070.hp1
NA19091.hp1
 intron_variant MODIFIER c.1984-10876G>A
c.1984-10876G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646092
chr22:43646102 T
T
 C
C
 47 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(44): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0022c0039t0001g0091
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0032c0042t0001g0275
 47 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(44): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1984-10886A>G
c.1984-10886A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646102
chr22:43646149 G
G
 A
A
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.1984-10933C>T
c.1984-10933C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646149
chr22:43646468 C
C
 T
T
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1984-11252G>A
c.1984-11252G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646468
chr22:43646503 A
A
 C
C
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1984-11287T>G
c.1984-11287T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646503
chr22:43646672 T
T
 C
C
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1984-11456A>G
c.1984-11456A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646672
chr22:43646896 G
G
 A
A
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1984-11680C>T
c.1984-11680C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646896
chr22:43646982 A
A
 G
G
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1984-11766T>C
c.1984-11766T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43646982
chr22:43647046 G
G
 C
C
 2 a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0207
a0003c0003t0001g0210
 2 HG00423.hp1
NA18944.hp1
HG00423.hp1
NA18944.hp1
 intron_variant MODIFIER c.1984-11830C>G
c.1984-11830C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647046
chr22:43647084 A
A
 G
G
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1984-11868T>C
c.1984-11868T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647084
chr22:43647090 T
T
 C
C
 8 a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0009t0001g0166
others(5): Show 
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
 8 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(5): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG02135.hp1
NA18960.hp2
NA18999.hp2
NA19064.hp2
NA19079.hp2
 intron_variant MODIFIER c.1984-11874A>G
c.1984-11874A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647090
chr22:43647098 A
A
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1984-11882T>A
c.1984-11882T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647098
chr22:43647100 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1984-11884A>G
c.1984-11884A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647100
chr22:43647112 T
T
 C
C
 5 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(2): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 5 HG02717.hp1
HG02895.hp1
HG02897.hp2
others(2): Show 
HG02717.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1984-11896A>G
c.1984-11896A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647112
chr22:43647288 G
G
 A
A
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1984-12072C>T
c.1984-12072C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647288
chr22:43647338 C
C
 T
T
 1 a0012c0016t0001g0274
a0012c0016t0001g0274
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1984-12122G>A
c.1984-12122G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647338
chr22:43647507 C
C
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-12291G>A
c.1984-12291G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647507
chr22:43647664 G
G
 C
C
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1984-12448C>G
c.1984-12448C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647664
chr22:43647751 C
C
 T
T
 2 a0001c0001t0001g0087
a0023c0034t0001g0082
a0001c0001t0001g0087
a0023c0034t0001g0082
 2 HG01433.hp1
HG03195.hp2
HG01433.hp1
HG03195.hp2
 intron_variant MODIFIER c.1984-12535G>A
c.1984-12535G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647751
chr22:43647986 G
G
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1984-12770C>A
c.1984-12770C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43647986
chr22:43648253 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1984-13037C>T
c.1984-13037C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648253
chr22:43648373 T
T
 A
A
 197 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(194): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 197 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(194): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-13157A>T
c.1984-13157A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648373
chr22:43648383 A
A
 G
G
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1984-13167T>C
c.1984-13167T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648383
chr22:43648458 C
C
 G
G
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1984-13242G>C
c.1984-13242G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648458
chr22:43648506 T
T
 C
C
 197 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(194): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 197 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(194): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-13290A>G
c.1984-13290A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648506
chr22:43648536 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1984-13320G>A
c.1984-13320G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648536
chr22:43648601 G
G
 A
A
 4 a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
others(1): Show 
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
 4 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(1): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG02683.hp2
 intron_variant MODIFIER c.1984-13385C>T
c.1984-13385C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648601
chr22:43648627 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1984-13411G>A
c.1984-13411G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648627
chr22:43648643 C
C
 T
T
 1 a0019c0043t0001g0224
a0019c0043t0001g0224
 1 NA18972.hp1
NA18972.hp1
 intron_variant MODIFIER c.1984-13427G>A
c.1984-13427G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648643
chr22:43648720 T
T
 C
C
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1984-13504A>G
c.1984-13504A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648720
chr22:43648893 T
T
 C
C
 41 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(38): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-13677A>G
c.1984-13677A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43648893
chr22:43649177 G
G
 A
A
 5 a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0203
others(2): Show 
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 5 HG00639.hp1
HG02145.hp2
NA18999.hp1
others(2): Show 
HG00639.hp1
HG02145.hp2
NA18999.hp1
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.1984-13961C>T
c.1984-13961C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43649177
chr22:43649395 A
A
 G
G
 22 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(19): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 22 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(19): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1984-14179T>C
c.1984-14179T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43649395
chr22:43649667 G
G
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1984-14451C>A
c.1984-14451C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43649667
chr22:43649751 T
T
 C
C
 16 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(13): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 16 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(13): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1984-14535A>G
c.1984-14535A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43649751
chr22:43649841 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1984-14625C>T
c.1984-14625C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43649841
chr22:43649848 G
G
 C
C
 34 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(31): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0020c0048t0001g0177
 34 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(31): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp2
HG02074.hp1
HG02135.hp1
HG02280.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1984-14632C>G
c.1984-14632C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43649848
chr22:43649991 C
C
 A
A
 41 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(38): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0141
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-14775G>T
c.1984-14775G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43649991
chr22:43650091 G
G
 A
A
 1 a0002c0038t0001g0260
a0002c0038t0001g0260
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1984-14875C>T
c.1984-14875C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650091
chr22:43650262 T
T
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1984-15046A>G
c.1984-15046A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650262
chr22:43650288 G
G
 A
A
 3 a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0024
a0001c0001t0001g0048
a0001c0001t0001g0049
 3 HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
 intron_variant MODIFIER c.1984-15072C>T
c.1984-15072C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650288
chr22:43650326 T
T
 C
C
 1 a0005c0020t0001g0161
a0005c0020t0001g0161
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1984-15110A>G
c.1984-15110A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650326
chr22:43650357 C
C
 T
T
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1984-15141G>A
c.1984-15141G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650357
chr22:43650378 C
C
 T
T
 1 a0002c0002t0001g0144
a0002c0002t0001g0144
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.1984-15162G>A
c.1984-15162G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650378
chr22:43650384 G
G
 A
A
 93 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(90): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0026c0028t0003g0003
a0031c0022t0001g0237
 93 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1984-15168C>T
c.1984-15168C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650384
chr22:43650393 G
G
 T
T
 2 a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0019t0001g0124
a0002c0019t0001g0125
 2 HG01934.hp1
HG02280.hp2
HG01934.hp1
HG02280.hp2
 intron_variant MODIFIER c.1984-15177C>A
c.1984-15177C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650393
chr22:43650485 T
T
 C
C
 78 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(75): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 78 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(75): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1984-15269A>G
c.1984-15269A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650485
chr22:43650501 C
C
 G
G
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1984-15285G>C
c.1984-15285G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650501
chr22:43650547 A
A
 C
C
 1 a0005c0020t0001g0169
a0005c0020t0001g0169
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1984-15331T>G
c.1984-15331T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650547
chr22:43650747 C
C
 T
T
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1984-15531G>A
c.1984-15531G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650747
chr22:43650780 A
A
 T
T
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1984-15564T>A
c.1984-15564T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650780
chr22:43650783 T
T
 A
A
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1984-15567A>T
c.1984-15567A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650783
chr22:43650792 C
C
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1984-15576G>T
c.1984-15576G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650792
chr22:43650835 A
A
 G
G
 198 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(195): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0141
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 198 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(195): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1984-15619T>C
c.1984-15619T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650835
chr22:43650951 T
T
 A
A
 1 a0002c0002t0001g0147
a0002c0002t0001g0147
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1984-15735A>T
c.1984-15735A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43650951
chr22:43651085 A
A
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1984-15869T>C
c.1984-15869T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651085
chr22:43651252 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+15852C>T
c.1983+15852C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651252
chr22:43651350 T
T
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+15754A>C
c.1983+15754A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651350
chr22:43651401 G
G
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+15703C>G
c.1983+15703C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651401
chr22:43651438 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1983+15666G>A
c.1983+15666G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651438
chr22:43651618 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+15486G>A
c.1983+15486G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651618
chr22:43651619 C
C
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+15485G>T
c.1983+15485G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651619
chr22:43651638 G
G
 C
C
 1 a0003c0003t0001g0217
a0003c0003t0001g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1983+15466C>G
c.1983+15466C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651638
chr22:43651792 G
G
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.1983+15312C>T
c.1983+15312C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43651792
chr22:43652062 G
G
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1983+15042C>G
c.1983+15042C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652062
chr22:43652280 G
G
 A
A
 35 a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
others(32): Show 
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
 35 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(32): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+14824C>T
c.1983+14824C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652280
chr22:43652413 CTCTT
CTCTT
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1983+14687_1983+14
others(10): Show 
c.1983+14687_1983+14690delAAGA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652413
chr22:43652461 C
C
 T
T
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1983+14643G>A
c.1983+14643G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652461
chr22:43652469 C
C
 T
T
 1 a0006c0006t0001g0272
a0006c0006t0001g0272
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1983+14635G>A
c.1983+14635G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652469
chr22:43652505 G
G
 A
A
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1983+14599C>T
c.1983+14599C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652505
chr22:43652752 T
T
 C
C
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.1983+14352A>G
c.1983+14352A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652752
chr22:43652815 C
C
 T
T
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+14289G>A
c.1983+14289G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652815
chr22:43652818 GA
GA
 G
G
 151 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(148): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0009t0001g0170
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
 151 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(148): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+14285delT
c.1983+14285delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652818
chr22:43652964 T
T
 A
A
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+14140A>T
c.1983+14140A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43652964
chr22:43653044 G
G
 C
C
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+14060C>G
c.1983+14060C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653044
chr22:43653051 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+14053G>A
c.1983+14053G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653051
chr22:43653052 G
G
 A
A
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1983+14052C>T
c.1983+14052C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653052
chr22:43653158 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1983+13946C>T
c.1983+13946C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653158
chr22:43653212 A
A
 ACAAGAAG
others(12): Show 
ACAAGAAGAACTGCAGACTC
 1 a0005c0004t0001g0093
a0005c0004t0001g0093
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1983+13873_1983+13
others(25): Show 
c.1983+13873_1983+13891dupGAGTCTGCAGTTCTTCTTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653212
chr22:43653244 T
T
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+13860A>G
c.1983+13860A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653244
chr22:43653341 T
T
 TA
TA
 16 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(13): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 16 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(13): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+13762dupT
c.1983+13762dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653341
chr22:43653383 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1983+13721A>G
c.1983+13721A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653383
chr22:43653404 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+13700G>A
c.1983+13700G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653404
chr22:43653464 A
A
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+13640T>G
c.1983+13640T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653464
chr22:43653591 C
C
 T
T
 1 a0003c0003t0001g0072
a0003c0003t0001g0072
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1983+13513G>A
c.1983+13513G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653591
chr22:43653691 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1983+13413C>T
c.1983+13413C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43653691
chr22:43654090 T
T
 C
C
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1983+13014A>G
c.1983+13014A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654090
chr22:43654231 T
T
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1983+12873A>C
c.1983+12873A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654231
chr22:43654274 T
T
 C
C
 31 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(28): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0022c0039t0001g0091
a0029c0031t0002g0012
a0032c0042t0001g0275
 31 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(28): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03453.hp1
HG03486.hp2
HG06807.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1983+12830A>G
c.1983+12830A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654274
chr22:43654281 TC
TC
 T
T
 15 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(12): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 15 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(12): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+12822delG
c.1983+12822delG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654281
chr22:43654483 G
G
 A
A
 56 a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
others(53): Show 
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0030c0032t0001g0126
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+12621C>T
c.1983+12621C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654483
chr22:43654484 A
A
 T
T
 56 a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
others(53): Show 
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0030c0032t0001g0126
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+12620T>A
c.1983+12620T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654484
chr22:43654718 C
C
 T
T
 91 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
others(88): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0026c0028t0003g0003
a0031c0022t0001g0237
 91 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(88): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+12386G>A
c.1983+12386G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654718
chr22:43654953 T
T
 TC
TC
 31 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(28): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0022c0039t0001g0091
a0029c0031t0002g0012
a0032c0042t0001g0275
 31 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(28): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03453.hp1
HG03486.hp2
HG06807.hp1
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1983+12150_1983+12
others(7): Show 
c.1983+12150_1983+12151insG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43654953
chr22:43655263 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+11841T>C
c.1983+11841T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655263
chr22:43655295 A
A
 G
G
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1983+11809T>C
c.1983+11809T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655295
chr22:43655416 TCA
TCA
 T
T
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.1983+11686_1983+11
others(8): Show 
c.1983+11686_1983+11687delTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655416
chr22:43655520 C
C
 CA
CA
 28 a0001c0001t0001g0153
a0003c0003t0001g0185
a0006c0006t0001g0163
others(25): Show 
a0001c0001t0001g0153
a0003c0003t0001g0185
a0006c0006t0001g0163
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 28 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(25): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02109.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02630.hp1
HG02683.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp1
HG03486.hp2
NA18522.hp1
NA18954.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1983+11583dupT
c.1983+11583dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655520
chr22:43655520 C
C
 CAA
CAA
 43 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(40): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0030c0032t0001g0126
 43 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(40): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG03209.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19057.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+11582_1983+11
others(8): Show 
c.1983+11582_1983+11583dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655520
chr22:43655520 CA
CA
 C
C
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0027c0030t0009g0290
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03579.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+11583delT
c.1983+11583delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655520
chr22:43655630 G
G
 A
A
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1983+11474C>T
c.1983+11474C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655630
chr22:43655677 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+11427C>T
c.1983+11427C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655677
chr22:43655853 A
A
 C
C
 16 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(13): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 16 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(13): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+11251T>G
c.1983+11251T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43655853
chr22:43656054 C
C
 G
G
 10 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(7): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0021c0036t0001g0138
 10 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(7): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03130.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.1983+11050G>C
c.1983+11050G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656054
chr22:43656161 C
C
 A
A
 92 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(89): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0026c0028t0003g0003
a0031c0022t0001g0237
 92 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(89): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+10943G>T
c.1983+10943G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656161
chr22:43656163 G
G
 A
A
 16 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(13): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 16 HG01496.hp1
HG02109.hp1
HG02572.hp1
others(13): Show 
HG01496.hp1
HG02109.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+10941C>T
c.1983+10941C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656163
chr22:43656196 C
C
 G
G
 185 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(182): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 185 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(182): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+10908G>C
c.1983+10908G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656196
chr22:43656253 G
G
 A
A
 1 a0002c0002t0004g0288
a0002c0002t0004g0288
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1983+10851C>T
c.1983+10851C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656253
chr22:43656309 A
A
 G
G
 150 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(147): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
 150 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(147): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+10795T>C
c.1983+10795T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656309
chr22:43656391 T
T
 TA
TA
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+10712dupT
c.1983+10712dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656391
chr22:43656544 A
A
 G
G
 1 a0002c0002t0001g0133
a0002c0002t0001g0133
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1983+10560T>C
c.1983+10560T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656544
chr22:43656630 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1983+10474G>A
c.1983+10474G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656630
chr22:43656672 T
T
 C
C
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+10432A>G
c.1983+10432A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656672
chr22:43656756 A
A
 G
G
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1983+10348T>C
c.1983+10348T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656756
chr22:43656813 G
G
 GGAGGCTA
others(6): Show 
GGAGGCTATAGCAA
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1983+10290_1983+10
others(19): Show 
c.1983+10290_1983+10291insTTGCTATAGCCTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656813
chr22:43656883 G
G
 A
A
 150 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(147): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
 150 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(147): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+10221C>T
c.1983+10221C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656883
chr22:43656898 A
A
 C
C
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.1983+10206T>G
c.1983+10206T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656898
chr22:43656966 A
A
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+10138T>C
c.1983+10138T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43656966
chr22:43657126 C
C
 CA
CA
 92 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(89): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0004g0288
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0031c0022t0001g0237
 92 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(89): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+9977dupT
c.1983+9977dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657126
chr22:43657135 C
C
 A
A
 167 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(164): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 167 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(164): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+9969G>T
c.1983+9969G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657135
chr22:43657186 T
T
 C
C
 34 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(31): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0020c0048t0001g0177
 34 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(31): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp2
HG02074.hp1
HG02135.hp1
HG02280.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1983+9918A>G
c.1983+9918A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657186
chr22:43657189 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1983+9915C>T
c.1983+9915C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657189
chr22:43657212 T
T
 A
A
 1 a0003c0003t0001g0230
a0003c0003t0001g0230
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.1983+9892A>T
c.1983+9892A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657212
chr22:43657428 T
T
 TA
TA
 41 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(38): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0016c0026t0001g0152
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+9675dupT
c.1983+9675dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657428
chr22:43657457 GTTTTGGA
others(3): Show 
GTTTTGGAAAT
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1983+9637_1983+964
others(14): Show 
c.1983+9637_1983+9646delATTTCCAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657457
chr22:43657479 T
T
 A
A
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.1983+9625A>T
c.1983+9625A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657479
chr22:43657570 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1983+9534G>T
c.1983+9534G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657570
chr22:43657724 T
T
 C
C
 3 a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
 3 HG02896.hp2
HG03195.hp2
HG03540.hp2
HG02896.hp2
HG03195.hp2
HG03540.hp2
 intron_variant MODIFIER c.1983+9380A>G
c.1983+9380A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657724
chr22:43657848 C
C
 T
T
 3 a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
 3 HG02896.hp2
HG03195.hp2
HG03540.hp2
HG02896.hp2
HG03195.hp2
HG03540.hp2
 intron_variant MODIFIER c.1983+9256G>A
c.1983+9256G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43657848
chr22:43658066 T
T
 TA
TA
 4 a0001c0001t0001g0087
a0002c0002t0001g0117
a0002c0002t0001g0118
others(1): Show 
a0001c0001t0001g0087
a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
 4 HG01433.hp1
HG02896.hp2
HG03195.hp2
others(1): Show 
HG01433.hp1
HG02896.hp2
HG03195.hp2
HG03540.hp2
 intron_variant MODIFIER c.1983+9037dupT
c.1983+9037dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658066
chr22:43658081 T
T
 G
G
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1983+9023A>C
c.1983+9023A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658081
chr22:43658086 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1983+9018C>T
c.1983+9018C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658086
chr22:43658101 G
G
 C
C
 181 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 181 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+9003C>G
c.1983+9003C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658101
chr22:43658183 G
G
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1983+8921C>A
c.1983+8921C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658183
chr22:43658186 C
C
 T
T
 11 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(8): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0021c0036t0001g0138
 11 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(8): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03130.hp2
HG03540.hp1
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.1983+8918G>A
c.1983+8918G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658186
chr22:43658262 A
A
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+8842T>C
c.1983+8842T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658262
chr22:43658333 G
G
 A
A
 2 a0003c0003t0001g0222
a0003c0003t0001g0225
a0003c0003t0001g0222
a0003c0003t0001g0225
 2 NA19004.hp1
NA19084.hp2
NA19004.hp1
NA19084.hp2
 intron_variant MODIFIER c.1983+8771C>T
c.1983+8771C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658333
chr22:43658483 G
G
 A
A
 1 a0003c0003t0001g0230
a0003c0003t0001g0230
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.1983+8621C>T
c.1983+8621C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658483
chr22:43658490 C
C
 G
G
 15 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(12): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 15 HG01496.hp1
HG02109.hp1
HG02717.hp1
others(12): Show 
HG01496.hp1
HG02109.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+8614G>C
c.1983+8614G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658490
chr22:43658531 C
C
 T
T
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1983+8573G>A
c.1983+8573G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658531
chr22:43658546 C
C
 T
T
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1983+8558G>A
c.1983+8558G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658546
chr22:43658585 A
A
 G
G
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1983+8519T>C
c.1983+8519T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658585
chr22:43658588 A
A
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+8516T>A
c.1983+8516T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658588
chr22:43658698 C
C
 T
T
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1983+8406G>A
c.1983+8406G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658698
chr22:43658715 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1983+8389C>T
c.1983+8389C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658715
chr22:43658730 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1983+8374A>G
c.1983+8374A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658730
chr22:43658937 C
C
 T
T
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1983+8167G>A
c.1983+8167G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43658937
chr22:43659215 C
C
 T
T
 28 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(25): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0017c0025t0002g0011
a0029c0031t0002g0012
a0032c0042t0001g0275
 28 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(25): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03453.hp1
HG03486.hp2
HG06807.hp1
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1983+7889G>A
c.1983+7889G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43659215
chr22:43659281 T
T
 G
G
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1983+7823A>C
c.1983+7823A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43659281
chr22:43659425 G
G
 A
A
 86 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(83): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0022c0039t0001g0091
a0029c0031t0002g0012
 86 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1983+7679C>T
c.1983+7679C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43659425
chr22:43659458 T
T
 G
G
 2 a0001c0023t0001g0254
a0031c0022t0001g0237
a0001c0023t0001g0254
a0031c0022t0001g0237
 2 HG02622.hp1
NA20129.hp2
HG02622.hp1
NA20129.hp2
 intron_variant MODIFIER c.1983+7646A>C
c.1983+7646A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43659458
chr22:43659849 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1983+7255C>T
c.1983+7255C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43659849
chr22:43659865 C
C
 T
T
 1 a0002c0002t0001g0264
a0002c0002t0001g0264
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1983+7239G>A
c.1983+7239G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43659865
chr22:43659982 G
G
 A
A
 14 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(11): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 14 HG01496.hp1
HG02109.hp1
HG02717.hp1
others(11): Show 
HG01496.hp1
HG02109.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+7122C>T
c.1983+7122C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43659982
chr22:43660036 C
C
 T
T
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1983+7068G>A
c.1983+7068G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660036
chr22:43660037 G
G
 A
A
 25 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0117
others(22): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0117
a0002c0002t0001g0118
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 25 HG01433.hp1
HG01496.hp1
HG02040.hp2
others(22): Show 
HG01433.hp1
HG01496.hp1
HG02040.hp2
HG02109.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+7067C>T
c.1983+7067C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660037
chr22:43660064 A
A
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1983+7040T>G
c.1983+7040T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660064
chr22:43660064 A
A
 G
G
 93 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(90): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0026c0028t0003g0003
a0031c0022t0001g0237
 93 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+7040T>C
c.1983+7040T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660064
chr22:43660092 A
A
 G
G
 94 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(91): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0121
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0026c0028t0003g0003
a0031c0022t0001g0237
 94 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(91): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01884.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+7012T>C
c.1983+7012T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660092
chr22:43660195 T
T
 C
C
 14 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(11): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0030c0032t0001g0126
 14 HG01496.hp1
HG02109.hp1
HG02717.hp1
others(11): Show 
HG01496.hp1
HG02109.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+6909A>G
c.1983+6909A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660195
chr22:43660236 G
G
 A
A
 3 a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
 3 HG02896.hp2
HG03195.hp2
HG03540.hp2
HG02896.hp2
HG03195.hp2
HG03540.hp2
 intron_variant MODIFIER c.1983+6868C>T
c.1983+6868C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660236
chr22:43660296 C
C
 T
T
 4 a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0204
others(1): Show 
a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 4 HG02145.hp2
NA18999.hp1
NA19009.hp1
others(1): Show 
HG02145.hp2
NA18999.hp1
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.1983+6808G>A
c.1983+6808G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660296
chr22:43660361 G
G
 A
A
 77 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(74): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 77 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(74): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1983+6743C>T
c.1983+6743C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660361
chr22:43660376 T
T
 A
A
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1983+6728A>T
c.1983+6728A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660376
chr22:43660398 A
A
 G
G
 184 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(181): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 184 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(181): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+6706T>C
c.1983+6706T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660398
chr22:43660490 T
T
 C
C
 184 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(181): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 184 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(181): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+6614A>G
c.1983+6614A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660490
chr22:43660511 T
T
 C
C
 2 a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0007t0002g0004
a0007c0007t0002g0005
 2 HG03516.hp1
NA18906.hp1
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1983+6593A>G
c.1983+6593A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660511
chr22:43660658 C
C
 G
G
 232 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(229): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0004t0001g0135
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 232 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(229): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+6446G>C
c.1983+6446G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660658
chr22:43660823 A
A
 G
G
 114 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(111): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 114 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(111): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+6281T>C
c.1983+6281T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660823
chr22:43660923 G
G
 A
A
 1 a0022c0039t0001g0091
a0022c0039t0001g0091
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1983+6181C>T
c.1983+6181C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660923
chr22:43660964 G
G
 A
A
 1 a0012c0016t0001g0281
a0012c0016t0001g0281
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1983+6140C>T
c.1983+6140C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43660964
chr22:43661091 T
T
 C
C
 1 a0010c0011t0001g0096
a0010c0011t0001g0096
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1983+6013A>G
c.1983+6013A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661091
chr22:43661103 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+6001C>T
c.1983+6001C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661103
chr22:43661401 A
A
 G
G
 2 a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0145
a0002c0002t0001g0146
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.1983+5703T>C
c.1983+5703T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661401
chr22:43661434 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1983+5670T>C
c.1983+5670T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661434
chr22:43661488 C
C
 T
T
 1 a0003c0003t0001g0217
a0003c0003t0001g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1983+5616G>A
c.1983+5616G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661488
chr22:43661501 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+5603C>T
c.1983+5603C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661501
chr22:43661540 G
G
 C
C
 35 a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
others(32): Show 
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
 35 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(32): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+5564C>G
c.1983+5564C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661540
chr22:43661558 T
T
 C
C
 1 a0003c0003t0001g0215
a0003c0003t0001g0215
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1983+5546A>G
c.1983+5546A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661558
chr22:43661587 T
T
 C
C
 1 a0005c0004t0001g0234
a0005c0004t0001g0234
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1983+5517A>G
c.1983+5517A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661587
chr22:43661844 C
C
 T
T
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1983+5260G>A
c.1983+5260G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661844
chr22:43661928 C
C
 T
T
 1 a0003c0003t0001g0209
a0003c0003t0001g0209
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.1983+5176G>A
c.1983+5176G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43661928
chr22:43662087 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1983+5017C>T
c.1983+5017C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662087
chr22:43662113 G
G
 A
A
 2 a0004c0005t0001g0180
a0020c0048t0001g0177
a0004c0005t0001g0180
a0020c0048t0001g0177
 2 NA19010.hp1
NA19087.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.1983+4991C>T
c.1983+4991C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662113
chr22:43662159 A
A
 AAAT
AAAT
 47 a0001c0001t0001g0025
a0001c0001t0001g0057
a0001c0001t0001g0058
others(44): Show 
a0001c0001t0001g0025
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0246
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0005c0004t0001g0127
a0005c0004t0001g0136
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0270
a0007c0014t0002g0015
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0036
a0008c0008t0001g0037
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
 47 HG00423.hp2
HG00597.hp2
HG01074.hp1
others(44): Show 
HG00423.hp2
HG00597.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02083.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02896.hp1
HG02897.hp1
HG02970.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG04115.hp1
NA18939.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18979.hp2
NA18984.hp1
NA19004.hp2
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19064.hp1
NA19066.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA20805.hp2
 intron_variant MODIFIER c.1983+4942_1983+494
others(7): Show 
c.1983+4942_1983+4944dupATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662159
chr22:43662159 A
A
 AAATAAT
AAATAAT
 4 a0002c0002t0001g0133
a0002c0002t0001g0245
a0008c0008t0001g0038
others(1): Show 
a0002c0002t0001g0133
a0002c0002t0001g0245
a0008c0008t0001g0038
a0024c0033t0001g0181
 4 HG02886.hp2
HG03041.hp2
HG03516.hp2
others(1): Show 
HG02886.hp2
HG03041.hp2
HG03516.hp2
NA19079.hp1
 intron_variant MODIFIER c.1983+4939_1983+494
others(10): Show 
c.1983+4939_1983+4944dupATTATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662159
chr22:43662159 AAAT
AAAT
 A
A
 123 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
others(120): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0066
a0001c0001t0001g0071
a0001c0001t0001g0076
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0223
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0175
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0167
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0012t0001g0097
a0005c0004t0001g0020
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0020t0001g0169
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0013c0018t0001g0092
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
 123 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(120): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG01070.hp2
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04228.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18951.hp1
NA18951.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+4942_1983+494
others(7): Show 
c.1983+4942_1983+4944delATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662159
chr22:43662159 AAATAAT
AAATAAT
 A
A
 22 a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0258
others(19): Show 
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0046t0001g0067
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0122
a0002c0002t0001g0244
a0004c0005t0001g0180
a0005c0020t0001g0161
a0005c0045t0001g0101
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0009c0010t0001g0148
a0013c0018t0001g0090
a0020c0048t0001g0177
a0022c0039t0001g0091
a0030c0032t0001g0126
 22 HG01243.hp1
HG01433.hp2
HG01496.hp1
others(19): Show 
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG02055.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03486.hp1
HG03540.hp2
HG04199.hp2
HG06807.hp2
NA18906.hp2
NA19010.hp1
NA19077.hp1
NA19087.hp2
NA20129.hp1
 intron_variant MODIFIER c.1983+4939_1983+494
others(10): Show 
c.1983+4939_1983+4944delATTATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662159
chr22:43662159 AAATAATA
others(2): Show 
AAATAATAAT
 A
A
 8 a0001c0001t0001g0087
a0003c0003t0001g0184
a0006c0006t0001g0279
others(5): Show 
a0001c0001t0001g0087
a0003c0003t0001g0184
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 8 HG01433.hp1
HG02004.hp1
HG02293.hp1
others(5): Show 
HG01433.hp1
HG02004.hp1
HG02293.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
NA18950.hp2
 intron_variant MODIFIER c.1983+4936_1983+494
others(13): Show 
c.1983+4936_1983+4944delATTATTATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662159
chr22:43662159 AAATAATA
others(8): Show 
AAATAATAATAATAAT
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0007c0014t0005g0014
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.1983+4930_1983+494
others(19): Show 
c.1983+4930_1983+4944delATTATTATTATTATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662159
chr22:43662352 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1983+4752G>A
c.1983+4752G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662352
chr22:43662367 C
C
 T
T
 1 a0002c0002t0001g0263
a0002c0002t0001g0263
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1983+4737G>A
c.1983+4737G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662367
chr22:43662477 T
T
 C
C
 3 a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
a0002c0002t0001g0117
a0002c0002t0001g0118
a0023c0034t0001g0082
 3 HG02896.hp2
HG03195.hp2
HG03540.hp2
HG02896.hp2
HG03195.hp2
HG03540.hp2
 intron_variant MODIFIER c.1983+4627A>G
c.1983+4627A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662477
chr22:43662531 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1983+4573G>A
c.1983+4573G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662531
chr22:43662629 T
T
 C
C
 1 a0005c0004t0001g0093
a0005c0004t0001g0093
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1983+4475A>G
c.1983+4475A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662629
chr22:43662658 G
G
 GA
GA
 14 a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
others(11): Show 
a0002c0002t0001g0120
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 14 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(11): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1983+4445dupT
c.1983+4445dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662658
chr22:43662737 C
C
 T
T
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1983+4367G>A
c.1983+4367G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662737
chr22:43662768 C
C
 G
G
 261 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(258): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 261 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(258): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+4336G>C
c.1983+4336G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662768
chr22:43662797 T
T
 C
C
 112 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(109): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 112 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(109): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+4307A>G
c.1983+4307A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662797
chr22:43662802 A
A
 G
G
 1 a0001c0035t0001g0235
a0001c0035t0001g0235
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.1983+4302T>C
c.1983+4302T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662802
chr22:43662833 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1983+4271G>A
c.1983+4271G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662833
chr22:43662863 C
C
 A
A
 1 a0002c0002t0001g0262
a0002c0002t0001g0262
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1983+4241G>T
c.1983+4241G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43662863
chr22:43663179 T
T
 C
C
 93 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(90): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0026c0028t0003g0003
a0031c0022t0001g0237
 93 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+3925A>G
c.1983+3925A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663179
chr22:43663192 C
C
 T
T
 184 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(181): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 184 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(181): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+3912G>A
c.1983+3912G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663192
chr22:43663464 T
T
 C
C
 4 a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0180
others(1): Show 
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0180
a0020c0048t0001g0177
 4 NA18941.hp1
NA18967.hp2
NA19010.hp1
others(1): Show 
NA18941.hp1
NA18967.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.1983+3640A>G
c.1983+3640A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663464
chr22:43663500 A
A
 C
C
 2 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0007
a0001c0001t0002g0008
 2 HG02809.hp2
HG03139.hp1
HG02809.hp2
HG03139.hp1
 intron_variant MODIFIER c.1983+3604T>G
c.1983+3604T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663500
chr22:43663635 T
T
 C
C
 1 a0004c0012t0001g0095
a0004c0012t0001g0095
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1983+3469A>G
c.1983+3469A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663635
chr22:43663755 G
G
 A
A
 1 a0002c0002t0001g0116
a0002c0002t0001g0116
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1983+3349C>T
c.1983+3349C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663755
chr22:43663793 C
C
 T
T
 1 a0005c0004t0001g0093
a0005c0004t0001g0093
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1983+3311G>A
c.1983+3311G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663793
chr22:43663884 G
G
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
a0030c0032t0001g0126
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+3220C>T
c.1983+3220C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663884
chr22:43663938 T
T
 A
A
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1983+3166A>T
c.1983+3166A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43663938
chr22:43664039 C
C
 T
T
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.1983+3065G>A
c.1983+3065G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43664039
chr22:43664040 A
A
 G
G
 142 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(139): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0017c0025t0002g0011
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 142 HG00140.hp2
HG00280.hp2
HG00323.hp2
others(139): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+3064T>C
c.1983+3064T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43664040
chr22:43664516 A
A
 G
G
 184 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(181): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 184 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(181): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+2588T>C
c.1983+2588T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43664516
chr22:43664619 G
G
 C
C
 2 a0002c0002t0001g0133
a0007c0014t0002g0017
a0002c0002t0001g0133
a0007c0014t0002g0017
 2 HG02572.hp1
HG02886.hp2
HG02572.hp1
HG02886.hp2
 intron_variant MODIFIER c.1983+2485C>G
c.1983+2485C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43664619
chr22:43664700 G
G
 A
A
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1983+2404C>T
c.1983+2404C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43664700
chr22:43664841 T
T
 C
C
 184 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(181): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0117
a0002c0002t0001g0118
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 184 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(181): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+2263A>G
c.1983+2263A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43664841
chr22:43664878 T
T
 A
A
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1983+2226A>T
c.1983+2226A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43664878
chr22:43665129 G
G
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1983+1975C>A
c.1983+1975C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665129
chr22:43665156 C
C
 T
T
 4 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
others(1): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
 4 HG02109.hp1
HG03139.hp2
NA19030.hp2
others(1): Show 
HG02109.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+1948G>A
c.1983+1948G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665156
chr22:43665167 T
T
 G
G
 1 a0008c0008t0001g0202
a0008c0008t0001g0202
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1983+1937A>C
c.1983+1937A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665167
chr22:43665268 C
C
 T
T
 2 a0001c0001t0001g0065
a0001c0001t0001g0153
a0001c0001t0001g0065
a0001c0001t0001g0153
 2 NA18522.hp1
NA18957.hp1
NA18522.hp1
NA18957.hp1
 intron_variant MODIFIER c.1983+1836G>A
c.1983+1836G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665268
chr22:43665407 C
C
 A
A
 2 a0002c0002t0001g0140
a0002c0002t0001g0143
a0002c0002t0001g0140
a0002c0002t0001g0143
 2 HG02602.hp2
HG03654.hp1
HG02602.hp2
HG03654.hp1
 intron_variant MODIFIER c.1983+1697G>T
c.1983+1697G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665407
chr22:43665426 C
C
 T
T
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+1678G>A
c.1983+1678G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665426
chr22:43665468 C
C
 T
T
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1983+1636G>A
c.1983+1636G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665468
chr22:43665552 C
C
 T
T
 1 a0002c0002t0001g0259
a0002c0002t0001g0259
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1983+1552G>A
c.1983+1552G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665552
chr22:43665560 G
G
 A
A
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1983+1544C>T
c.1983+1544C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665560
chr22:43665575 A
A
 T
T
 1 a0002c0002t0001g0246
a0002c0002t0001g0246
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1983+1529T>A
c.1983+1529T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665575
chr22:43665789 CTTCT
CTTCT
 C
C
 12 a0001c0001t0001g0153
a0007c0007t0001g0156
a0007c0007t0001g0157
others(9): Show 
a0001c0001t0001g0153
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0024c0033t0001g0181
a0027c0030t0009g0290
 12 HG01496.hp1
HG02109.hp1
HG02723.hp1
others(9): Show 
HG01496.hp1
HG02109.hp1
HG02723.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03453.hp2
HG03579.hp1
NA18522.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+1311_1983+131
others(8): Show 
c.1983+1311_1983+1314delAGAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665789
chr22:43665990 G
G
 A
A
 1 a0001c0013t0001g0188
a0001c0013t0001g0188
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1983+1114C>T
c.1983+1114C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43665990
chr22:43666021 C
C
 T
T
 4 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
others(1): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
 4 HG02109.hp1
HG03139.hp2
NA19030.hp2
others(1): Show 
HG02109.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+1083G>A
c.1983+1083G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666021
chr22:43666098 T
T
 C
C
 1 a0007c0014t0002g0015
a0007c0014t0002g0015
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1983+1006A>G
c.1983+1006A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666098
chr22:43666149 C
C
 A
A
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1983+955G>T
c.1983+955G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666149
chr22:43666219 G
G
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1983+885C>G
c.1983+885C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666219
chr22:43666459 A
A
 G
G
 34 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(31): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0020c0048t0001g0177
 34 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(31): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp2
HG02074.hp1
HG02135.hp1
HG02280.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1983+645T>C
c.1983+645T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666459
chr22:43666535 G
G
 C
C
 42 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(39): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+569C>G
c.1983+569C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666535
chr22:43666691 G
G
 GT
GT
 26 a0001c0001t0001g0040
a0002c0002t0001g0117
a0002c0021t0001g0250
others(23): Show 
a0001c0001t0001g0040
a0002c0002t0001g0117
a0002c0021t0001g0250
a0004c0005t0001g0022
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0134
a0005c0020t0001g0169
a0006c0006t0001g0265
 26 HG00099.hp2
HG00140.hp1
HG00323.hp2
others(23): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG02698.hp1
HG03540.hp2
HG03834.hp2
HG03942.hp1
HG04199.hp1
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18983.hp2
NA18999.hp2
NA19007.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1983+412dupA
c.1983+412dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666691
chr22:43666691 G
G
 GTT
GTT
 82 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(79): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0021t0001g0179
a0004c0005t0001g0021
a0004c0005t0001g0088
a0004c0005t0001g0252
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0005g0014
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0012c0016t0001g0274
a0012c0016t0001g0281
a0014c0017t0001g0282
a0020c0048t0001g0177
a0032c0042t0001g0275
 82 HG00280.hp2
HG00597.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02886.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18984.hp1
NA18999.hp1
NA19000.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.1983+411_1983+412d
others(4): Show 
c.1983+411_1983+412dupAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666691
chr22:43666691 G
G
 GTTT
GTTT
 20 a0001c0001t0001g0041
a0001c0001t0001g0059
a0001c0001t0001g0061
others(17): Show 
a0001c0001t0001g0041
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0080
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0236
a0001c0001t0007g0238
a0001c0047t0001g0178
a0003c0003t0001g0231
a0006c0006t0001g0271
a0006c0006t0001g0272
a0007c0014t0002g0016
a0007c0014t0002g0018
a0008c0008t0001g0026
a0008c0029t0001g0034
a0013c0018t0001g0092
a0014c0017t0001g0283
 20 HG00423.hp2
HG00558.hp2
HG01934.hp2
others(17): Show 
HG00423.hp2
HG00558.hp2
HG01934.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02630.hp1
HG02818.hp1
HG03098.hp1
HG03139.hp2
HG03492.hp1
NA18963.hp1
NA18974.hp2
NA18979.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp1
NA19077.hp1
NA19080.hp1
NA19083.hp1
 intron_variant MODIFIER c.1983+410_1983+412d
others(5): Show 
c.1983+410_1983+412dupAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666691
chr22:43666691 GT
GT
 G
G
 13 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0143
others(10): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0004g0288
a0005c0004t0001g0132
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0286
 13 HG01099.hp1
HG01257.hp2
HG01258.hp1
others(10): Show 
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02280.hp1
HG02602.hp2
HG03195.hp1
HG03654.hp1
NA18522.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.1983+412delA
c.1983+412delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666691
chr22:43666693 T
T
 TTTG
TTTG
 37 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(34): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0019c0043t0001g0224
 37 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+410_1983+411i
others(5): Show 
c.1983+410_1983+411insCAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666693
chr22:43666701 T
T
 TTTG
TTTG
 36 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(33): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0017c0025t0002g0011
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
 36 HG01175.hp2
HG01496.hp1
HG02293.hp2
others(33): Show 
HG01175.hp2
HG01496.hp1
HG02293.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03579.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1983+402_1983+403i
others(5): Show 
c.1983+402_1983+403insCAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666701
chr22:43666791 T
T
 C
C
 1 a0001c0001t0007g0238
a0001c0001t0007g0238
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1983+313A>G
c.1983+313A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666791
chr22:43666942 C
C
 T
T
 1 a0001c0001t0003g0001
a0001c0001t0003g0001
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1983+162G>A
c.1983+162G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666942
chr22:43666954 C
C
 CA
CA
 75 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(72): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0004c0005t0001g0248
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 75 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1983+149dupT
c.1983+149dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666954
chr22:43666954 CA
CA
 C
C
 6 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
others(3): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
 6 HG02109.hp1
HG03139.hp2
HG03491.hp2
others(3): Show 
HG02109.hp1
HG03139.hp2
HG03491.hp2
HG03492.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+149delT
c.1983+149delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666954
chr22:43666959 A
A
 G
G
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1983+145T>C
c.1983+145T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43666959
chr22:43667043 T
T
 C
C
 4 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
others(1): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0018
a0007c0014t0005g0014
 4 HG02109.hp1
HG03139.hp2
NA19030.hp2
others(1): Show 
HG02109.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1983+61A>G
c.1983+61A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43667043
chr22:43667058 G
G
 A
A
 64 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
 64 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02622.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1983+46C>T
c.1983+46C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 17/31 chr22 43667058
chr22:43667299 C
C
 T
T
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1815-27G>A
c.1815-27G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667299
chr22:43667336 A
A
 T
T
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.1815-64T>A
c.1815-64T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667336
chr22:43667345 A
A
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1815-73T>C
c.1815-73T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667345
chr22:43667525 G
G
 T
T
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1815-253C>A
c.1815-253C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667525
chr22:43667527 A
A
 T
T
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1815-255T>A
c.1815-255T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667527
chr22:43667532 G
G
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1815-260C>A
c.1815-260C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667532
chr22:43667735 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1815-463G>A
c.1815-463G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667735
chr22:43667783 T
T
 C
C
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1815-511A>G
c.1815-511A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43667783
chr22:43668139 C
C
 T
T
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1814+733G>A
c.1814+733G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43668139
chr22:43668303 T
T
 C
C
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1814+569A>G
c.1814+569A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43668303
chr22:43668326 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1814+546C>T
c.1814+546C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43668326
chr22:43668328 A
A
 G
G
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1814+544T>C
c.1814+544T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43668328
chr22:43668437 T
T
 C
C
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1814+435A>G
c.1814+435A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43668437
chr22:43668709 T
T
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1814+163A>C
c.1814+163A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43668709
chr22:43668784 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1814+88T>C
c.1814+88T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 16/31 chr22 43668784
chr22:43669237 A
A
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1641-192T>G
c.1641-192T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669237
chr22:43669271 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1641-226T>C
c.1641-226T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669271
chr22:43669398 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1641-353G>A
c.1641-353G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669398
chr22:43669460 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1641-415G>A
c.1641-415G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669460
chr22:43669555 G
G
 A
A
 6 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
others(3): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 6 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(3): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
 intron_variant MODIFIER c.1641-510C>T
c.1641-510C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669555
chr22:43669578 T
T
 G
G
 22 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(19): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 22 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(19): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1641-533A>C
c.1641-533A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669578
chr22:43669646 T
T
 C
C
 34 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(31): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0020c0048t0001g0177
 34 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(31): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp2
HG02074.hp1
HG02135.hp1
HG02280.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18522.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1641-601A>G
c.1641-601A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669646
chr22:43669861 G
G
 A
A
 164 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(161): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 164 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(161): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1641-816C>T
c.1641-816C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669861
chr22:43669890 C
C
 T
T
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1641-845G>A
c.1641-845G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669890
chr22:43669984 G
G
 A
A
 2 a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0245
a0002c0002t0001g0246
 2 HG02615.hp1
HG03516.hp2
HG02615.hp1
HG03516.hp2
 intron_variant MODIFIER c.1641-939C>T
c.1641-939C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43669984
chr22:43670078 T
T
 C
C
 1 a0008c0008t0001g0026
a0008c0008t0001g0026
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.1641-1033A>G
c.1641-1033A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670078
chr22:43670231 G
G
 A
A
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1641-1186C>T
c.1641-1186C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670231
chr22:43670378 T
T
 C
C
 2 a0002c0021t0001g0179
a0004c0005t0001g0022
a0002c0021t0001g0179
a0004c0005t0001g0022
 2 NA18941.hp1
NA18967.hp2
NA18941.hp1
NA18967.hp2
 intron_variant MODIFIER c.1641-1333A>G
c.1641-1333A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670378
chr22:43670645 C
C
 T
T
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1640+1328G>A
c.1640+1328G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670645
chr22:43670667 C
C
 T
T
 180 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(177): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 180 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(177): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1640+1306G>A
c.1640+1306G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670667
chr22:43670680 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1640+1293C>T
c.1640+1293C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670680
chr22:43670893 A
A
 G
G
 181 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 181 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1640+1080T>C
c.1640+1080T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670893
chr22:43670920 T
T
 C
C
 12 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(9): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0022c0039t0001g0091
a0030c0032t0001g0126
 12 HG01243.hp1
HG01496.hp1
HG02717.hp1
others(9): Show 
HG01243.hp1
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1640+1053A>G
c.1640+1053A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670920
chr22:43670983 A
A
 G
G
 1 a0029c0031t0002g0012
a0029c0031t0002g0012
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1640+990T>C
c.1640+990T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43670983
chr22:43671085 G
G
 T
T
 3 a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
 3 HG02559.hp2
HG02723.hp2
HG02970.hp2
HG02559.hp2
HG02723.hp2
HG02970.hp2
 intron_variant MODIFIER c.1640+888C>A
c.1640+888C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43671085
chr22:43671090 T
T
 C
C
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1640+883A>G
c.1640+883A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43671090
chr22:43671370 T
T
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1640+603A>G
c.1640+603A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43671370
chr22:43671498 T
T
 C
C
 2 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0154
a0007c0007t0001g0155
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 intron_variant MODIFIER c.1640+475A>G
c.1640+475A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43671498
chr22:43671581 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1640+392T>C
c.1640+392T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 15/31 chr22 43671581
chr22:43672313 G
G
 A
A
 3 a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
 3 HG01515.hp2
HG01517.hp2
HG02300.hp1
HG01515.hp2
HG01517.hp2
HG02300.hp1
 splice_region_variant&intron_variant LOW c.1420-8C>T
c.1420-8C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43672313
chr22:43672711 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1420-406C>T
c.1420-406C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43672711
chr22:43672711 G
G
 T
T
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1420-406C>A
c.1420-406C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43672711
chr22:43672883 T
T
 TA
TA
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1420-579dupT
c.1420-579dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43672883
chr22:43673131 T
T
 C
C
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1420-826A>G
c.1420-826A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673131
chr22:43673175 C
C
 T
T
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1420-870G>A
c.1420-870G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673175
chr22:43673191 C
C
 T
T
 1 a0004c0009t0001g0170
a0004c0009t0001g0170
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.1420-886G>A
c.1420-886G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673191
chr22:43673212 GA
GA
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1420-908delT
c.1420-908delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673212
chr22:43673260 C
C
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1420-955G>A
c.1420-955G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673260
chr22:43673412 C
C
 T
T
 240 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(237): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 240 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(237): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1420-1107G>A
c.1420-1107G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673412
chr22:43673652 C
C
 T
T
 1 a0001c0013t0001g0208
a0001c0013t0001g0208
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1420-1347G>A
c.1420-1347G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673652
chr22:43673673 G
G
 A
A
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.1420-1368C>T
c.1420-1368C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673673
chr22:43673728 C
C
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1420-1423G>A
c.1420-1423G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673728
chr22:43673729 G
G
 A
A
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1420-1424C>T
c.1420-1424C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673729
chr22:43673819 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1420-1514A>G
c.1420-1514A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673819
chr22:43673922 G
G
 A
A
 1 a0020c0048t0001g0177
a0020c0048t0001g0177
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1420-1617C>T
c.1420-1617C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673922
chr22:43673923 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1420-1618G>A
c.1420-1618G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673923
chr22:43673924 G
G
 A
A
 1 a0001c0001t0003g0001
a0001c0001t0003g0001
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1420-1619C>T
c.1420-1619C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43673924
chr22:43674094 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1420-1789G>A
c.1420-1789G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674094
chr22:43674101 A
A
 G
G
 35 a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
others(32): Show 
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
 35 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(32): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1420-1796T>C
c.1420-1796T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674101
chr22:43674134 A
A
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.1420-1829T>A
c.1420-1829T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674134
chr22:43674411 A
A
 G
G
 27 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(24): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 27 HG01175.hp2
HG01496.hp1
HG02293.hp2
others(24): Show 
HG01175.hp2
HG01496.hp1
HG02293.hp2
HG02622.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1420-2106T>C
c.1420-2106T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674411
chr22:43674650 C
C
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1420-2345G>T
c.1420-2345G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674650
chr22:43674713 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1420-2408A>G
c.1420-2408A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674713
chr22:43674758 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1420-2453C>T
c.1420-2453C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674758
chr22:43674888 T
T
 C
C
 181 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 181 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1420-2583A>G
c.1420-2583A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674888
chr22:43674956 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1420-2651G>T
c.1420-2651G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43674956
chr22:43675082 C
C
 T
T
 1 a0001c0046t0001g0067
a0001c0046t0001g0067
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1420-2777G>A
c.1420-2777G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675082
chr22:43675089 T
T
 G
G
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1420-2784A>C
c.1420-2784A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675089
chr22:43675214 C
C
 T
T
 62 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(59): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0032c0042t0001g0275
 62 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(59): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02630.hp1
HG02683.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+2782G>A
c.1419+2782G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675214
chr22:43675282 AATT
AATT
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1419+2711_1419+271
others(7): Show 
c.1419+2711_1419+2713delAAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675282
chr22:43675312 G
G
 GTATATAC
others(22): Show 
GTATATACTATAATATATAATATAATATAC
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1419+2683_1419+268
others(33): Show 
c.1419+2683_1419+2684insGTATATTATATTATATATTATAGTAT
ATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675312
chr22:43675312 G
G
 GTATATTA
others(25): Show 
GTATATTATACTATAATATATAATATAATATAC
 3 a0002c0019t0001g0124
a0002c0019t0001g0125
a0011c0015t0001g0102
a0002c0019t0001g0124
a0002c0019t0001g0125
a0011c0015t0001g0102
 3 HG01261.hp2
HG01934.hp1
HG02280.hp2
HG01261.hp2
HG01934.hp1
HG02280.hp2
 intron_variant MODIFIER c.1419+2652_1419+268
others(36): Show 
c.1419+2652_1419+2683dupGTATATTATATTATATATTATAGTAT
AATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675312
chr22:43675312 G
G
 GTATATTA
others(57): Show 
GTATATTATACTATAATATATAATATAATATACTATATTATACTATAATA
TATAATATAATATAC
 2 a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0099
a0011c0015t0001g0100
 2 HG01070.hp1
HG01071.hp1
HG01070.hp1
HG01071.hp1
 intron_variant MODIFIER c.1419+2620_1419+268
others(68): Show 
c.1419+2620_1419+2683dupGTATATTATATTATATATTATAGTAT
AATATAGTATATTATATTATATATTATAGTATAATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675312
chr22:43675312 GTATATTA
others(25): Show 
GTATATTATACTATAATATATAATATAATATAC
 G
G
 167 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
others(164): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
a0032c0042t0001g0275
 167 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(164): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+2652_1419+268
others(36): Show 
c.1419+2652_1419+2683delGTATATTATATTATATATTATAGTAT
AATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675312
chr22:43675317 T
T
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1419+2679A>T
c.1419+2679A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675317
chr22:43675318 T
T
 A
A
 6 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
others(3): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 6 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(3): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
 intron_variant MODIFIER c.1419+2678A>T
c.1419+2678A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675318
chr22:43675321 AC
AC
 A
A
 6 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
others(3): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 6 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(3): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
 intron_variant MODIFIER c.1419+2674delG
c.1419+2674delG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675321
chr22:43675327 A
A
 G
G
 6 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
others(3): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 6 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(3): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
 intron_variant MODIFIER c.1419+2669T>C
c.1419+2669T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675327
chr22:43675337 T
T
 TAGTATAG
others(86): Show 
TAGTATAGTATAATTATAGTATATAATTATACTATATTATACTATAATAT
ATACTATATATTATATACTATATATATATATACTATAGTATATA
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1419+2658_1419+265
others(97): Show 
c.1419+2658_1419+2659insTATATACTATAGTATATATATATATA
GTATATAATATATAGTATATATTATAGTATAATATAGTATAATTATATAC
TATAATTATACTATACT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675337
chr22:43675337 T
T
 TAGTATAG
others(88): Show 
TAGTATAGTATAATTATAGTATATAATTATACTATATTATACTATAATAT
ATACTATATATTATATACTATATATATATATATACTATAGTATATA
 5 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0145
others(2): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 5 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(2): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
 intron_variant MODIFIER c.1419+2658_1419+265
others(99): Show 
c.1419+2658_1419+2659insTATATACTATAGTATATATATATATA
TAGTATATAATATATAGTATATATTATAGTATAATATAGTATAATTATAT
ACTATAATTATACTATACT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675337
chr22:43675339 A
A
 T
T
 6 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
others(3): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 6 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(3): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
 intron_variant MODIFIER c.1419+2657T>A
c.1419+2657T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675339
chr22:43675376 C
C
 G
G
 2 a0004c0009t0001g0166
a0004c0009t0001g0168
a0004c0009t0001g0166
a0004c0009t0001g0168
 2 NA18999.hp2
NA19064.hp2
NA18999.hp2
NA19064.hp2
 intron_variant MODIFIER c.1419+2620G>C
c.1419+2620G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675376
chr22:43675453 T
T
 TATATGAT
others(22): Show 
TATATGATATAATATATAATATAATATGTA
 1 a0002c0002t0001g0241
a0002c0002t0001g0241
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1419+2514_1419+254
others(33): Show 
c.1419+2514_1419+2542dupTACATATTATATTATATATTATATCA
TAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675453
chr22:43675458 G
G
 GATATAAT
GATATAAT
 179 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(176): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 179 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(176): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+2531_1419+253
others(11): Show 
c.1419+2531_1419+2537dupATTATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675458
chr22:43675514 AG
AG
 A
A
 7 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
 7 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(4): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02602.hp1
HG02735.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.1419+2481delC
c.1419+2481delC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675514
chr22:43675538 T
T
 G
G
 241 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(238): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0120
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 241 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(238): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+2458A>C
c.1419+2458A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675538
chr22:43675575 T
T
 A
A
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.1419+2421A>T
c.1419+2421A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675575
chr22:43675606 TATATA
TATATA
 T
T
 17 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(14): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0017c0025t0002g0011
a0029c0031t0002g0012
 17 HG01884.hp2
HG02055.hp1
HG02109.hp1
others(14): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1419+2385_1419+238
others(9): Show 
c.1419+2385_1419+2389delTATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675606
chr22:43675634 A
A
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1419+2362T>C
c.1419+2362T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675634
chr22:43675637 ATTGTTAT
others(2240): Show 
ATTGTTATATAAAGTATAATATATAATAATTCCATTTCTAGAAATAGATA
CTAAATAATCATAAAGTGATGCAAAAAAGCAGGTACCAAGATGTAATTAA
TTAATGTAATTGTAAAAATATAATAATATGTAATGTATGATGTAATTATA
TATTATAATATAATATAACTCTATATACAATATGTCTGGATATATATATA
TCCAGCAACATAAAAATGCCCACATGTTTTGGGCCAGTATTTCTACTTCT
AAAATCTATTCTAAGGAAATATTTAGATATGAATGGAGATCTGTGCACAA
AGATGTCCAGCATAATATAAGTAAGTAGAGAAACAGCCTAACTGCCCCAG
TGACAAGGACATGCGCAGAACACTCTTAGATACCACTGAAAATCTTATTT
ATGATGAGTTTTTAATGATGTGGGGTGAGGGGGAAAGGCTCATCATATAA
CGTGAAGCTGAAAAAATGGAATATACAAAGTCATACAAAAATGAGTTCAG
GCCAGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACCTTGGGAGGCCGAG
GTGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGT
GAAACCCCGTCTCTACTAAACATACAAAAAATTAGCCGGGTGTGGTGGTA
GGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTG
AACCCAGGAGGCAGGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACT
CCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAA
AGAATGAGTTCAACCATGTAAACAAAAAAATGTGCCCACCCACATACAAA
GAGTGGAAGAAAATTTATCAAAATTTTAACTGTGTAACTATCGCTGAGTG
TTGGGATTTGGGATTTTTATCATTATTTTCACCTTTGTAGTTTGGCATAT
TTTCTAATCTACAATGAATTTCTGTTACTTGTGTAATCACAAAACATTTG
AATAAGTTATGTACTATGGCCTATTAAAATTACCTCCAGAATGTTGGTAG
AAAATGTCTACATGTACCAAGAGGAGGTAATTTAAATATGACACTTTCGC
TCCAATAAACTGTCCCATTTTAAACCAAGAAGTATGCCATAAACTCTTCC
CAAGACCATGATCAAAAACCACGACAGATGGAAAGGATTTATTGATGATG
AATAAATTGCATTTTGCACAGAAACCATCAGAATAGAATGCAGCTGGCTT
CAGCTAAACCATCTTAAAGCTTTCCCTAAAGCAAGGCACCCCATTCAGAT
CCATTCAGTAGAAACATCACCTTTAGGGAAATAGTGCATCTCGTGATATT
ACTGGTTTGATTTTGATTCATAGGGATGCCAACGTCATAAATCTAAAATT
AAAAGCTAATTTGTACCTGTTAAAAGCAGCTTTTTAAAAAACATTTCAAC
AAGAATCTGTTAAAACCTATTGCATGCACTATCTGAAATTGATAAAGTTC
TTAAAATTTTTTAAATGCTAATAGCTATTAAAGTTATAGAAACATTTCTA
ATAATAAAAGTGTCAACTTTTCAGTCAAAAGAAGCAAATGCTAAAGGCAA
ATGCTAGTCACTAGAGGCAATAAGCAGTTATTTTTTTAAAGTTGAACCAA
CATAGGGTACGAAACTCTAAAAACATGAATGAGAACCAGAGTAGTCACTC
ACAAATACTCCTTTCAAAGACATGGCTGTGGCCAGGCGCGGTGGCTCACG
CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGTGGATCACGAGGTCA
GGAGATCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAA
AACACAAAAATTACCCGGGCGTAGCAGCACGTGCCTGTAGTCCCAGCTAC
TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGGTGGAGGCTGC
AGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGAGAGA
CTCGACGGAGAGAGACTCCATCTCAAGAAAAAAACAAGAACAACAAAAAT
AAATAAATAAATAAGACATGGCTGCAAGAGGAGTGCTGTTGAGGTGGCGC
CAGTTACATCCTGTATATAAAGGGCTCTCGTTCAGGGATGGGTTTTCAGA
AACGTCAATTACCATCCTTTTTTAAGATTCAGAAACTAAAAGTTAAAATC
AAAGTGCTTAAACACTTGACCCTCACTTAAAATGATTGAGTTGAAAAC
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1419+112_1419+2358
others(3): Show 
c.1419+112_1419+2358del
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675637
chr22:43675685 T
T
 C
C
 5 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(2): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 5 HG02717.hp1
HG02895.hp1
HG02897.hp2
others(2): Show 
HG02717.hp1
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1419+2311A>G
c.1419+2311A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675685
chr22:43675762 A
A
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1419+2234T>G
c.1419+2234T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675762
chr22:43675789 TTATAA
TTATAA
 T
T
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1419+2202_1419+220
others(9): Show 
c.1419+2202_1419+2206delTTATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675789
chr22:43675805 C
C
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1419+2191G>T
c.1419+2191G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675805
chr22:43675812 T
T
 G
G
 3 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0133
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0133
 3 HG02145.hp1
HG02451.hp2
HG02886.hp2
HG02145.hp1
HG02451.hp2
HG02886.hp2
 intron_variant MODIFIER c.1419+2184A>C
c.1419+2184A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43675812
chr22:43676001 G
G
 A
A
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.1419+1995C>T
c.1419+1995C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676001
chr22:43676174 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1419+1822A>G
c.1419+1822A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676174
chr22:43676213 C
C
 T
T
 3 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0133
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0133
 3 HG02145.hp1
HG02451.hp2
HG02886.hp2
HG02145.hp1
HG02451.hp2
HG02886.hp2
 intron_variant MODIFIER c.1419+1783G>A
c.1419+1783G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676213
chr22:43676273 C
C
 T
T
 72 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(69): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 72 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(69): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1419+1723G>A
c.1419+1723G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676273
chr22:43676294 A
A
 G
G
 181 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 181 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+1702T>C
c.1419+1702T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676294
chr22:43676418 C
C
 CA
CA
 11 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0056
others(8): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0056
a0001c0001t0002g0007
a0001c0001t0002g0008
a0002c0002t0001g0246
a0002c0002t0001g0259
a0005c0004t0001g0130
a0007c0014t0002g0015
a0020c0048t0001g0177
a0030c0032t0001g0126
 11 HG02615.hp1
HG02717.hp1
HG02809.hp2
others(8): Show 
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02976.hp2
HG03139.hp1
NA18947.hp1
NA18957.hp2
NA18965.hp1
NA19010.hp1
NA19030.hp2
NA19087.hp1
 intron_variant MODIFIER c.1419+1577dupT
c.1419+1577dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676418
chr22:43676418 CA
CA
 C
C
 41 a0001c0001t0001g0030
a0001c0001t0001g0052
a0001c0013t0001g0187
others(38): Show 
a0001c0001t0001g0030
a0001c0001t0001g0052
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0257
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00438.hp2
HG00597.hp1
others(38): Show 
HG00280.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG02922.hp1
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18962.hp2
NA18972.hp1
NA18974.hp2
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+1577delT
c.1419+1577delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676418
chr22:43676481 T
T
 C
C
 181 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 181 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+1515A>G
c.1419+1515A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676481
chr22:43676735 G
G
 A
A
 7 a0001c0001t0001g0087
a0002c0002t0001g0139
a0002c0002t0001g0141
others(4): Show 
a0001c0001t0001g0087
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 7 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(4): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01515.hp1
 intron_variant MODIFIER c.1419+1261C>T
c.1419+1261C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676735
chr22:43676913 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1419+1083A>G
c.1419+1083A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676913
chr22:43676979 G
G
 A
A
 1 a0002c0002t0001g0111
a0002c0002t0001g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1419+1017C>T
c.1419+1017C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676979
chr22:43676984 A
A
 T
T
 1 a0004c0005t0001g0175
a0004c0005t0001g0175
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1419+1012T>A
c.1419+1012T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676984
chr22:43676989 T
T
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1419+1007A>C
c.1419+1007A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43676989
chr22:43677063 C
C
 A
A
 180 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(177): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 180 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(177): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+933G>T
c.1419+933G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677063
chr22:43677141 A
A
 C
C
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1419+855T>G
c.1419+855T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677141
chr22:43677171 T
T
 C
C
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1419+825A>G
c.1419+825A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677171
chr22:43677205 T
T
 C
C
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1419+791A>G
c.1419+791A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677205
chr22:43677374 G
G
 A
A
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1419+622C>T
c.1419+622C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677374
chr22:43677403 T
T
 A
A
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1419+593A>T
c.1419+593A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677403
chr22:43677483 T
T
 C
C
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1419+513A>G
c.1419+513A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677483
chr22:43677784 A
A
 G
G
 1 a0003c0003t0001g0185
a0003c0003t0001g0185
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.1419+212T>C
c.1419+212T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 13/31 chr22 43677784
chr22:43678179 T
T
 C
C
 2 a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0245
a0002c0002t0001g0246
 2 HG02615.hp1
HG03516.hp2
HG02615.hp1
HG03516.hp2
 intron_variant MODIFIER c.1252-16A>G
c.1252-16A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678179
chr22:43678196 G
G
 GA
GA
 62 a0001c0001t0001g0063
a0001c0001t0001g0153
a0001c0013t0001g0187
others(59): Show 
a0001c0001t0001g0063
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0165
a0005c0004t0001g0020
a0006c0006t0001g0163
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 62 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(59): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02109.hp1
HG02135.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02683.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18965.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1252-34dupT
c.1252-34dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678196
chr22:43678196 G
G
 GAA
GAA
 8 a0003c0003t0001g0227
a0006c0006t0001g0257
a0006c0006t0001g0270
others(5): Show 
a0003c0003t0001g0227
a0006c0006t0001g0257
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0013c0018t0001g0090
a0022c0039t0001g0091
a0032c0042t0001g0275
 8 HG01243.hp1
HG02257.hp2
HG02922.hp1
others(5): Show 
HG01243.hp1
HG02257.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03486.hp2
NA19009.hp2
NA20129.hp1
 intron_variant MODIFIER c.1252-35_1252-34dup
others(2): Show 
c.1252-35_1252-34dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678196
chr22:43678196 GA
GA
 G
G
 13 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0259
a0026c0028t0003g0003
 13 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(10): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
 intron_variant MODIFIER c.1252-34delT
c.1252-34delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678196
chr22:43678303 C
C
 T
T
 229 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(226): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 229 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(226): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1252-140G>A
c.1252-140G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678303
chr22:43678329 C
C
 CTG
CTG
 43 a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0140
others(40): Show 
a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0264
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0167
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
 43 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(40): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01074.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02074.hp1
HG02135.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp1
HG02896.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG04199.hp1
HG04199.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18983.hp1
NA18983.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1252-168_1252-167d
others(4): Show 
c.1252-168_1252-167dupCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 C
C
 CTGTG
CTGTG
 11 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
others(8): Show 
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0002c0002t0001g0139
a0002c0002t0001g0245
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0009t0001g0166
a0004c0009t0001g0168
a0005c0004t0001g0130
 11 HG01099.hp1
HG01433.hp1
HG03209.hp1
others(8): Show 
HG01099.hp1
HG01433.hp1
HG03209.hp1
HG03516.hp2
NA18941.hp1
NA18957.hp2
NA18967.hp2
NA18999.hp2
NA19043.hp1
NA19064.hp2
NA19240.hp2
 intron_variant MODIFIER c.1252-170_1252-167d
others(6): Show 
c.1252-170_1252-167dupCACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 C
C
 CTGTGTG
CTGTGTG
 15 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
others(12): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0192
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 15 HG01175.hp2
HG02055.hp2
HG02293.hp2
others(12): Show 
HG01175.hp2
HG02055.hp2
HG02293.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG03017.hp1
HG04228.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA18984.hp1
NA20129.hp2
 intron_variant MODIFIER c.1252-172_1252-167d
others(8): Show 
c.1252-172_1252-167dupCACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 C
C
 CTGTGTGT
others(1): Show 
CTGTGTGTG
 5 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0023t0001g0254
others(2): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0023t0001g0254
a0008c0008t0001g0037
a0023c0034t0001g0082
 5 HG02083.hp2
HG02300.hp2
HG02622.hp1
others(2): Show 
HG02083.hp2
HG02300.hp2
HG02622.hp1
HG03195.hp2
NA19087.hp1
 intron_variant MODIFIER c.1252-174_1252-167d
others(10): Show 
c.1252-174_1252-167dupCACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 C
C
 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 59 a0001c0001t0001g0025
a0001c0001t0001g0030
a0001c0001t0001g0032
others(56): Show 
a0001c0001t0001g0025
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 59 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(56): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00735.hp1
HG01074.hp2
HG01169.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18963.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA20905.hp2
 intron_variant MODIFIER c.1252-176_1252-167d
others(12): Show 
c.1252-176_1252-167dupCACACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 C
C
 CTGTGTGT
others(5): Show 
CTGTGTGTGTGTG
 6 a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0049
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0195
a0001c0047t0001g0178
a0009c0010t0001g0148
 6 HG01069.hp2
HG01071.hp2
HG01255.hp2
others(3): Show 
HG01069.hp2
HG01071.hp2
HG01255.hp2
HG02630.hp2
NA18960.hp1
NA19080.hp1
 intron_variant MODIFIER c.1252-178_1252-167d
others(14): Show 
c.1252-178_1252-167dupCACACACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 C
C
 CTGTGTGT
others(7): Show 
CTGTGTGTGTGTGTG
 2 a0001c0001t0001g0024
a0001c0001t0001g0066
a0001c0001t0001g0024
a0001c0001t0001g0066
 2 HG00642.hp1
HG01070.hp2
HG00642.hp1
HG01070.hp2
 intron_variant MODIFIER c.1252-180_1252-167d
others(16): Show 
c.1252-180_1252-167dupCACACACACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 C
C
 CTGTGTGT
others(9): Show 
CTGTGTGTGTGTGTGTG
 2 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0028
a0001c0001t0001g0029
 2 NA18947.hp1
NA18965.hp1
NA18947.hp1
NA18965.hp1
 intron_variant MODIFIER c.1252-182_1252-167d
others(18): Show 
c.1252-182_1252-167dupCACACACACACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 CTG
CTG
 C
C
 6 a0002c0002t0001g0121
a0003c0003t0001g0215
a0007c0014t0002g0015
others(3): Show 
a0002c0002t0001g0121
a0003c0003t0001g0215
a0007c0014t0002g0015
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 6 HG01884.hp1
HG02572.hp1
HG03139.hp2
others(3): Show 
HG01884.hp1
HG02572.hp1
HG03139.hp2
HG03669.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1252-168_1252-167d
others(4): Show 
c.1252-168_1252-167delCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 CTGTG
CTGTG
 C
C
 43 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(40): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0029c0031t0002g0012
 43 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(40): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03654.hp2
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1252-170_1252-167d
others(6): Show 
c.1252-170_1252-167delCACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 CTGTGTG
CTGTGTG
 C
C
 20 a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
others(17): Show 
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0012c0016t0001g0281
a0014c0017t0001g0282
a0014c0017t0001g0283
a0028c0041t0001g0189
a0030c0032t0001g0126
a0032c0042t0001g0275
 20 HG00280.hp1
HG00639.hp2
HG01081.hp1
others(17): Show 
HG00280.hp1
HG00639.hp2
HG01081.hp1
HG01175.hp1
HG01496.hp1
HG02451.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1252-172_1252-167d
others(8): Show 
c.1252-172_1252-167delCACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 CTGTGTGT
others(1): Show 
CTGTGTGTG
 C
C
 8 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0269
others(5): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0012c0016t0001g0274
a0012c0016t0006g0266
 8 HG00140.hp2
HG01243.hp2
HG02257.hp2
others(5): Show 
HG00140.hp2
HG01243.hp2
HG02257.hp2
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
NA18954.hp1
 intron_variant MODIFIER c.1252-174_1252-167d
others(10): Show 
c.1252-174_1252-167delCACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678329 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 C
C
 12 a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
others(9): Show 
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 12 HG00323.hp2
HG01243.hp1
HG01346.hp1
others(9): Show 
HG00323.hp2
HG01243.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG03453.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1252-176_1252-167d
others(12): Show 
c.1252-176_1252-167delCACACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678329
chr22:43678386 T
T
 C
C
 3 a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 3 HG01243.hp1
HG02630.hp1
NA20129.hp1
HG01243.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.1252-223A>G
c.1252-223A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678386
chr22:43678522 C
C
 T
T
 1 a0004c0012t0001g0095
a0004c0012t0001g0095
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1252-359G>A
c.1252-359G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678522
chr22:43678805 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1252-642C>T
c.1252-642C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678805
chr22:43678819 T
T
 C
C
 180 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(177): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 180 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(177): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1252-656A>G
c.1252-656A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678819
chr22:43678830 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1252-667G>A
c.1252-667G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678830
chr22:43678850 G
G
 A
A
 1 a0007c0007t0001g0160
a0007c0007t0001g0160
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1252-687C>T
c.1252-687C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43678850
chr22:43679003 A
A
 C
C
 77 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(74): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 77 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(74): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.1252-840T>G
c.1252-840T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43679003
chr22:43679018 C
C
 T
T
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1252-855G>A
c.1252-855G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43679018
chr22:43679054 A
A
 C
C
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.1252-891T>G
c.1252-891T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43679054
chr22:43679345 C
C
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1252-1182G>A
c.1252-1182G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43679345
chr22:43679766 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1252-1603A>G
c.1252-1603A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43679766
chr22:43680122 A
A
 C
C
 2 a0005c0004t0001g0107
a0005c0004t0001g0127
a0005c0004t0001g0107
a0005c0004t0001g0127
 2 HG03491.hp1
HG03669.hp2
HG03491.hp1
HG03669.hp2
 intron_variant MODIFIER c.1252-1959T>G
c.1252-1959T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680122
chr22:43680254 T
T
 G
G
 101 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(98): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 101 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(98): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1252-2091A>C
c.1252-2091A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680254
chr22:43680483 G
G
 GA
GA
 22 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(19): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 22 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(19): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1252-2321dupT
c.1252-2321dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680483
chr22:43680535 G
G
 A
A
 22 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(19): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 22 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(19): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1252-2372C>T
c.1252-2372C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680535
chr22:43680575 G
G
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1252-2412C>T
c.1252-2412C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680575
chr22:43680738 C
C
 A
A
 1 a0001c0047t0001g0178
a0001c0047t0001g0178
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.1252-2575G>T
c.1252-2575G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680738
chr22:43680970 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1251+2777A>G
c.1251+2777A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680970
chr22:43680980 C
C
 G
G
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1251+2767G>C
c.1251+2767G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43680980
chr22:43681227 T
T
 C
C
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1251+2520A>G
c.1251+2520A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43681227
chr22:43681256 A
A
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1251+2491T>A
c.1251+2491T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43681256
chr22:43681559 A
A
 G
G
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1251+2188T>C
c.1251+2188T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43681559
chr22:43681593 T
T
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1251+2154A>C
c.1251+2154A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43681593
chr22:43681597 A
A
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1251+2150T>A
c.1251+2150T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43681597
chr22:43681990 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1251+1757C>T
c.1251+1757C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43681990
chr22:43682093 C
C
 T
T
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1251+1654G>A
c.1251+1654G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682093
chr22:43682123 C
C
 T
T
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1251+1624G>A
c.1251+1624G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682123
chr22:43682147 G
G
 T
T
 1 a0003c0003t0001g0231
a0003c0003t0001g0231
 1 NA18974.hp2
NA18974.hp2
 intron_variant MODIFIER c.1251+1600C>A
c.1251+1600C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682147
chr22:43682212 A
A
 G
G
 1 a0001c0013t0001g0188
a0001c0013t0001g0188
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1251+1535T>C
c.1251+1535T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682212
chr22:43682259 A
A
 G
G
 1 a0007c0014t0002g0017
a0007c0014t0002g0017
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1251+1488T>C
c.1251+1488T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682259
chr22:43682471 T
T
 A
A
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1251+1276A>T
c.1251+1276A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682471
chr22:43682529 G
G
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1251+1218C>A
c.1251+1218C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682529
chr22:43682549 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1251+1198G>A
c.1251+1198G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682549
chr22:43682627 A
A
 C
C
 79 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(76): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 79 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(76): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1251+1120T>G
c.1251+1120T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682627
chr22:43682752 A
A
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1251+995T>A
c.1251+995T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682752
chr22:43682839 A
A
 G
G
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1251+908T>C
c.1251+908T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682839
chr22:43682856 C
C
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1251+891G>A
c.1251+891G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682856
chr22:43682992 C
C
 T
T
 75 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(72): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1251+755G>A
c.1251+755G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43682992
chr22:43683188 C
C
 T
T
 6 a0002c0002t0001g0122
a0010c0011t0001g0096
a0010c0011t0001g0098
others(3): Show 
a0002c0002t0001g0122
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 6 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(3): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
NA18906.hp2
 intron_variant MODIFIER c.1251+559G>A
c.1251+559G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43683188
chr22:43683278 T
T
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1251+469A>T
c.1251+469A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43683278
chr22:43683558 A
A
 T
T
 110 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(107): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 110 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(107): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1251+189T>A
c.1251+189T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43683558
chr22:43683572 C
C
 G
G
 196 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
others(193): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 196 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(193): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1251+175G>C
c.1251+175G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43683572
chr22:43683658 G
G
 A
A
 2 a0006c0006t0001g0279
a0006c0006t0001g0280
a0006c0006t0001g0279
a0006c0006t0001g0280
 2 HG02004.hp1
HG02293.hp1
HG02004.hp1
HG02293.hp1
 intron_variant MODIFIER c.1251+89C>T
c.1251+89C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43683658
chr22:43683677 G
G
 A
A
 8 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(5): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 8 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(5): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03654.hp1
 intron_variant MODIFIER c.1251+70C>T
c.1251+70C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 12/31 chr22 43683677
chr22:43684114 C
C
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1143-259G>C
c.1143-259G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684114
chr22:43684196 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1143-341G>A
c.1143-341G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684196
chr22:43684201 C
C
 T
T
 1 a0002c0021t0001g0250
a0002c0021t0001g0250
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1143-346G>A
c.1143-346G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684201
chr22:43684345 C
C
 T
T
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1143-490G>A
c.1143-490G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684345
chr22:43684599 A
A
 C
C
 273 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(270): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 273 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(270): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-744T>G
c.1143-744T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684599
chr22:43684766 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1143-911G>A
c.1143-911G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684766
chr22:43684780 A
A
 G
G
 1 a0002c0021t0001g0179
a0002c0021t0001g0179
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1143-925T>C
c.1143-925T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684780
chr22:43684789 T
T
 C
C
 1 a0003c0003t0001g0220
a0003c0003t0001g0220
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.1143-934A>G
c.1143-934A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43684789
chr22:43685052 C
C
 T
T
 273 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(270): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 273 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(270): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1143-1197G>A
c.1143-1197G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685052
chr22:43685346 C
C
 T
T
 1 a0003c0003t0001g0228
a0003c0003t0001g0228
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1143-1491G>A
c.1143-1491G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685346
chr22:43685546 G
G
 A
A
 20 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(17): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 20 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(17): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03540.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.1143-1691C>T
c.1143-1691C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685546
chr22:43685550 A
A
 G
G
 109 a0001c0001t0001g0087
a0002c0002t0001g0111
a0002c0002t0001g0115
others(106): Show 
a0001c0001t0001g0087
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 109 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(106): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1143-1695T>C
c.1143-1695T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685550
chr22:43685633 C
C
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1143-1778G>T
c.1143-1778G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685633
chr22:43685648 C
C
 G
G
 2 a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0245
a0002c0002t0001g0246
 2 HG02615.hp1
HG03516.hp2
HG02615.hp1
HG03516.hp2
 intron_variant MODIFIER c.1143-1793G>C
c.1143-1793G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685648
chr22:43685689 C
C
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1142+1782G>C
c.1142+1782G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685689
chr22:43685895 T
T
 C
C
 6 a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
others(3): Show 
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0180
a0020c0048t0001g0177
 6 HG02074.hp1
NA18941.hp1
NA18967.hp2
others(3): Show 
HG02074.hp1
NA18941.hp1
NA18967.hp2
NA19007.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.1142+1576A>G
c.1142+1576A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685895
chr22:43685985 AT
AT
 A
A
 263 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(260): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
a0032c0042t0001g0275
 263 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(260): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+1485delA
c.1142+1485delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685985
chr22:43685985 ATT
ATT
 A
A
 10 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(7): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0118
a0017c0025t0002g0011
a0029c0031t0002g0012
 10 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(7): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1142+1484_1142+148
others(6): Show 
c.1142+1484_1142+1485delAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43685985
chr22:43686117 G
G
 A
A
 1 a0001c0013t0001g0208
a0001c0013t0001g0208
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1142+1354C>T
c.1142+1354C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686117
chr22:43686259 C
C
 T
T
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1142+1212G>A
c.1142+1212G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686259
chr22:43686371 T
T
 C
C
 1 a0002c0021t0001g0250
a0002c0021t0001g0250
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1142+1100A>G
c.1142+1100A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686371
chr22:43686449 T
T
 C
C
 1 a0001c0013t0001g0208
a0001c0013t0001g0208
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1142+1022A>G
c.1142+1022A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686449
chr22:43686468 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1142+1003A>G
c.1142+1003A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686468
chr22:43686542 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1142+929G>A
c.1142+929G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686542
chr22:43686567 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1142+904T>C
c.1142+904T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686567
chr22:43686574 A
A
 C
C
 9 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(6): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 9 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(6): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.1142+897T>G
c.1142+897T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686574
chr22:43686608 T
T
 G
G
 8 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(5): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 8 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(5): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03654.hp1
 intron_variant MODIFIER c.1142+863A>C
c.1142+863A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686608
chr22:43686610 GC
GC
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1142+860delG
c.1142+860delG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686610
chr22:43686733 G
G
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1142+738C>G
c.1142+738C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686733
chr22:43686764 C
C
 A
A
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1142+707G>T
c.1142+707G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686764
chr22:43686776 G
G
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1142+695C>T
c.1142+695C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686776
chr22:43686839 C
C
 T
T
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1142+632G>A
c.1142+632G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686839
chr22:43686928 T
T
 A
A
 110 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(107): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 110 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(107): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1142+543A>T
c.1142+543A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43686928
chr22:43687122 T
T
 C
C
 4 a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
others(1): Show 
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0239
 4 HG01169.hp2
HG01255.hp2
HG02109.hp2
others(1): Show 
HG01169.hp2
HG01255.hp2
HG02109.hp2
NA20905.hp2
 intron_variant MODIFIER c.1142+349A>G
c.1142+349A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43687122
chr22:43687363 T
T
 G
G
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1142+108A>C
c.1142+108A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43687363
chr22:43687377 A
A
 G
G
 1 a0013c0018t0001g0092
a0013c0018t0001g0092
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1142+94T>C
c.1142+94T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43687377
chr22:43687447 G
G
 GT
GT
 193 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(190): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0289
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0212
a0003c0003t0001g0216
a0003c0003t0001g0220
a0003c0003t0001g0227
a0003c0003t0001g0231
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0024c0033t0001g0181
a0030c0032t0001g0126
a0031c0022t0001g0237
 193 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(190): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1142+23dupA
c.1142+23dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43687447
chr22:43687447 G
G
 GTT
GTT
 18 a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
others(15): Show 
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0001c0001t0001g0200
a0002c0002t0004g0288
a0002c0019t0001g0124
a0004c0005t0001g0252
a0005c0004t0001g0106
a0005c0004t0001g0131
a0007c0007t0001g0160
a0008c0008t0001g0026
a0021c0036t0001g0138
a0027c0030t0009g0290
 18 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(15): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02280.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG03098.hp2
HG03130.hp2
HG03492.hp2
HG03579.hp1
HG06807.hp2
NA18961.hp2
NA19000.hp1
NA19005.hp1
NA19010.hp2
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.1142+22_1142+23dup
others(2): Show 
c.1142+22_1142+23dupAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43687447
chr22:43687447 GT
GT
 G
G
 8 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(5): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0007c0014t0002g0017
a0007c0014t0002g0018
 8 HG02572.hp1
HG03139.hp2
NA18950.hp2
others(5): Show 
HG02572.hp1
HG03139.hp2
NA18950.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.1142+23delA
c.1142+23delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 11/31 chr22 43687447
chr22:43687621 AT
AT
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1032-41delA
c.1032-41delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43687621
chr22:43687645 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1032-64A>G
c.1032-64A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43687645
chr22:43687791 C
C
 T
T
 273 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(270): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0032c0042t0001g0275
 273 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(270): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-210G>A
c.1032-210G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43687791
chr22:43687967 C
C
 T
T
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1032-386G>A
c.1032-386G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43687967
chr22:43688002 G
G
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1032-421C>T
c.1032-421C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688002
chr22:43688048 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1032-467C>T
c.1032-467C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688048
chr22:43688364 C
C
 T
T
 22 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(19): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 22 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(19): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1032-783G>A
c.1032-783G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688364
chr22:43688481 A
A
 G
G
 1 a0018c0044t0001g0221
a0018c0044t0001g0221
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1032-900T>C
c.1032-900T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688481
chr22:43688513 C
C
 T
T
 1 a0002c0002t0001g0144
a0002c0002t0001g0144
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.1032-932G>A
c.1032-932G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688513
chr22:43688627 T
T
 A
A
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1032-1046A>T
c.1032-1046A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688627
chr22:43688659 TTG
TTG
 T
T
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.1032-1080_1032-107
others(6): Show 
c.1032-1080_1032-1079delCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688659
chr22:43688696 C
C
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1032-1115G>T
c.1032-1115G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688696
chr22:43688699 T
T
 C
C
 79 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(76): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 79 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(76): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-1118A>G
c.1032-1118A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688699
chr22:43688701 G
G
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1032-1120C>A
c.1032-1120C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43688701
chr22:43689126 G
G
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.1032-1545C>T
c.1032-1545C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689126
chr22:43689208 G
G
 A
A
 1 a0004c0005t0001g0175
a0004c0005t0001g0175
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-1627C>T
c.1032-1627C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689208
chr22:43689349 G
G
 GCA
GCA
 61 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
others(58): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 61 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(58): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02698.hp2
HG02738.hp2
HG02818.hp1
HG03017.hp2
HG03834.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1032-1770_1032-176
others(6): Show 
c.1032-1770_1032-1769dupTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACA
GCACA
 12 a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0001c0001t0001g0087
a0002c0002t0001g0129
a0002c0019t0001g0124
a0002c0019t0001g0125
a0005c0004t0001g0136
a0008c0008t0001g0026
a0031c0022t0001g0237
 12 HG00642.hp1
HG01261.hp1
HG01433.hp1
others(9): Show 
HG00642.hp1
HG01261.hp1
HG01433.hp1
HG01934.hp1
HG01943.hp1
HG02280.hp2
HG02602.hp1
HG02809.hp1
HG03492.hp2
HG04115.hp1
NA19010.hp2
NA20129.hp2
 intron_variant MODIFIER c.1032-1772_1032-176
others(8): Show 
c.1032-1772_1032-1769dupTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACAAA
GCACAAA
 57 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(54): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0017
a0007c0014t0002g0018
a0013c0018t0001g0092
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0032c0042t0001g0275
 57 HG00280.hp1
HG00323.hp2
HG00423.hp1
others(54): Show 
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-1769_1032-176
others(10): Show 
c.1032-1769_1032-1768insTTTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACAAAC
others(1): Show 
GCACAAACA
 14 a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
others(11): Show 
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0003c0003t0001g0213
a0003c0003t0001g0220
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0017c0025t0002g0011
a0022c0039t0001g0091
a0029c0031t0002g0012
 14 HG00140.hp2
HG00597.hp1
HG00639.hp2
others(11): Show 
HG00140.hp2
HG00597.hp1
HG00639.hp2
HG01243.hp1
HG02055.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG04228.hp1
NA20129.hp1
 intron_variant MODIFIER c.1032-1769_1032-176
others(12): Show 
c.1032-1769_1032-1768insTGTTTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACAAAC
others(3): Show 
GCACAAACAAA
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1032-1769_1032-176
others(14): Show 
c.1032-1769_1032-1768insTTTGTTTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACAAAC
others(3): Show 
GCACAAACACA
 2 a0001c0001t0001g0083
a0001c0001t0002g0013
a0001c0001t0001g0083
a0001c0001t0002g0013
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.1032-1769_1032-176
others(14): Show 
c.1032-1769_1032-1768insTGTGTTTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACAAAC
others(9): Show 
GCACAAACACACACACA
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1032-1769_1032-176
others(20): Show 
c.1032-1769_1032-1768insTGTGTGTGTGTTTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACACA
GCACACA
 38 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
others(35): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
a0002c0002t0001g0111
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0004g0288
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0135
a0005c0004t0001g0137
a0005c0045t0001g0101
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0021c0036t0001g0138
 38 HG00280.hp2
HG00323.hp1
HG01070.hp1
others(35): Show 
HG00280.hp2
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01515.hp1
HG01884.hp1
HG02135.hp2
HG02257.hp1
HG02602.hp2
HG02735.hp1
HG03041.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04199.hp1
HG06807.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.1032-1774_1032-176
others(10): Show 
c.1032-1774_1032-1769dupTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACACAC
others(1): Show 
GCACACACA
 31 a0001c0001t0001g0153
a0002c0002t0001g0115
a0002c0002t0001g0116
others(28): Show 
a0001c0001t0001g0153
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0133
a0002c0002t0001g0245
a0002c0037t0001g0119
a0004c0005t0001g0089
a0004c0012t0001g0019
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0015c0024t0001g0128
a0030c0032t0001g0126
 31 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(28): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp2
HG02040.hp2
HG02083.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA19007.hp2
 intron_variant MODIFIER c.1032-1776_1032-176
others(12): Show 
c.1032-1776_1032-1769dupTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACACAC
others(3): Show 
GCACACACACA
 27 a0002c0002t0001g0120
a0002c0002t0001g0244
a0002c0002t0001g0246
others(24): Show 
a0002c0002t0001g0120
a0002c0002t0001g0244
a0002c0002t0001g0246
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0289
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0165
a0004c0005t0001g0180
a0004c0005t0001g0248
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 27 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(24): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG02074.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02698.hp1
HG02723.hp2
HG02922.hp2
HG02970.hp2
HG03130.hp1
HG03486.hp1
HG03579.hp2
HG04199.hp2
NA18941.hp1
NA18951.hp1
NA18960.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
 intron_variant MODIFIER c.1032-1778_1032-176
others(14): Show 
c.1032-1778_1032-1769dupTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACACAC
others(5): Show 
GCACACACACACA
 6 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(3): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0004c0005t0001g0021
a0004c0005t0001g0249
a0004c0005t0001g0251
 6 HG02135.hp1
HG02896.hp1
HG02897.hp1
others(3): Show 
HG02135.hp1
HG02896.hp1
HG02897.hp1
HG03195.hp1
NA18945.hp1
NA18962.hp1
 intron_variant MODIFIER c.1032-1780_1032-176
others(16): Show 
c.1032-1780_1032-1769dupTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACACAC
others(7): Show 
GCACACACACACACA
 10 a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
others(7): Show 
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0027c0030t0009g0290
 10 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(7): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG01884.hp2
HG02280.hp1
HG02630.hp2
HG02683.hp2
HG03579.hp1
NA19030.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-1782_1032-176
others(18): Show 
c.1032-1782_1032-1769dupTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACACAC
others(11): Show 
GCACACACACACACACACA
 3 a0002c0002t0001g0259
a0016c0026t0001g0152
a0024c0033t0001g0181
a0002c0002t0001g0259
a0016c0026t0001g0152
a0024c0033t0001g0181
 3 HG01069.hp1
HG02976.hp2
HG03041.hp2
HG01069.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.1032-1786_1032-176
others(22): Show 
c.1032-1786_1032-1769dupTGTGTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 G
G
 GCACACAC
others(13): Show 
GCACACACACACACACACACA
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1032-1788_1032-176
others(24): Show 
c.1032-1788_1032-1769dupTGTGTGTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689349 GCACACAC
others(7): Show 
GCACACACACACACA
 G
G
 1 a0004c0005t0001g0247
a0004c0005t0001g0247
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.1032-1782_1032-176
others(18): Show 
c.1032-1782_1032-1769delTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689349
chr22:43689350 C
C
 CACAA
CACAA
 3 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0005g0014
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0005g0014
 3 HG02109.hp1
NA19030.hp2
NA19043.hp2
HG02109.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1032-1770_1032-176
others(8): Show 
c.1032-1770_1032-1769insTTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689350
chr22:43689422 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1032-1841C>T
c.1032-1841C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689422
chr22:43689699 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1032-2118G>A
c.1032-2118G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43689699
chr22:43690040 A
A
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1032-2459T>G
c.1032-2459T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690040
chr22:43690157 T
T
 A
A
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1032-2576A>T
c.1032-2576A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690157
chr22:43690274 C
C
 T
T
 1 a0004c0005t0001g0175
a0004c0005t0001g0175
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-2693G>A
c.1032-2693G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690274
chr22:43690343 C
C
 CA
CA
 27 a0001c0001t0001g0025
a0001c0001t0001g0041
a0001c0001t0001g0046
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0059
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0255
a0002c0002t0001g0123
a0003c0003t0001g0182
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0004c0005t0001g0180
a0007c0014t0002g0015
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0016c0026t0001g0152
a0031c0022t0001g0237
 27 HG00438.hp2
HG00735.hp1
HG01069.hp1
others(24): Show 
HG00438.hp2
HG00735.hp1
HG01069.hp1
HG02083.hp2
HG02698.hp2
HG02738.hp2
HG02976.hp1
HG04115.hp1
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18954.hp2
NA18967.hp1
NA18972.hp2
NA18979.hp1
NA19000.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19077.hp1
NA19079.hp1
NA19083.hp1
NA19084.hp2
NA19087.hp2
NA20129.hp2
 intron_variant MODIFIER c.1032-2763dupT
c.1032-2763dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690343
chr22:43690343 C
C
 CAA
CAA
 94 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0117
others(91): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
 94 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(91): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA19007.hp1
NA19007.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-2764_1032-276
others(6): Show 
c.1032-2764_1032-2763dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690343
chr22:43690343 C
C
 CAAA
CAAA
 7 a0002c0002t0001g0116
a0002c0021t0001g0179
a0004c0005t0001g0252
others(4): Show 
a0002c0002t0001g0116
a0002c0021t0001g0179
a0004c0005t0001g0252
a0004c0009t0001g0168
a0005c0004t0001g0127
a0009c0010t0001g0151
a0020c0048t0001g0177
 7 HG02145.hp1
HG03669.hp2
NA18967.hp2
others(4): Show 
HG02145.hp1
HG03669.hp2
NA18967.hp2
NA18999.hp2
NA19000.hp1
NA19010.hp1
NA19030.hp1
 intron_variant MODIFIER c.1032-2765_1032-276
others(7): Show 
c.1032-2765_1032-2763dupTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690343
chr22:43690343 CA
CA
 C
C
 22 a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0083
others(19): Show 
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0003c0003t0001g0219
a0003c0003t0001g0229
a0003c0003t0001g0231
a0007c0007t0001g0154
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0017c0025t0002g0011
 22 HG01496.hp1
HG02004.hp2
HG02109.hp1
others(19): Show 
HG01496.hp1
HG02004.hp2
HG02109.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp2
HG06807.hp1
NA18961.hp1
NA18962.hp2
NA18974.hp2
NA19077.hp2
 intron_variant MODIFIER c.1032-2763delT
c.1032-2763delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690343
chr22:43690343 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1032-2771_1032-276
others(13): Show 
c.1032-2771_1032-2763delTTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690343
chr22:43690344 A
A
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1032-2763T>G
c.1032-2763T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690344
chr22:43690439 C
C
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1032-2858G>C
c.1032-2858G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690439
chr22:43690447 C
C
 T
T
 1 a0001c0027t0001g0075
a0001c0027t0001g0075
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1032-2866G>A
c.1032-2866G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690447
chr22:43690459 T
T
 C
C
 1 a0003c0003t0001g0223
a0003c0003t0001g0223
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.1032-2878A>G
c.1032-2878A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690459
chr22:43690464 C
C
 G
G
 1 a0002c0021t0001g0179
a0002c0021t0001g0179
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1032-2883G>C
c.1032-2883G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690464
chr22:43690517 G
G
 GA
GA
 100 a0001c0001t0001g0087
a0002c0002t0001g0111
a0002c0002t0001g0115
others(97): Show 
a0001c0001t0001g0087
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0003c0003t0001g0182
a0003c0003t0001g0227
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
 100 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(97): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18979.hp1
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-2937dupT
c.1032-2937dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690517
chr22:43690643 C
C
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-3062G>T
c.1032-3062G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690643
chr22:43690647 G
G
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1032-3066C>A
c.1032-3066C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690647
chr22:43690667 C
C
 G
G
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.1032-3086G>C
c.1032-3086G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690667
chr22:43690752 G
G
 C
C
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.1032-3171C>G
c.1032-3171C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690752
chr22:43690869 T
T
 C
C
 189 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
others(186): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 189 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(186): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-3288A>G
c.1032-3288A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690869
chr22:43690935 T
T
 C
C
 3 a0001c0001t0001g0043
a0001c0001t0007g0238
a0001c0047t0001g0178
a0001c0001t0001g0043
a0001c0001t0007g0238
a0001c0047t0001g0178
 3 HG00558.hp2
HG00621.hp1
NA19080.hp1
HG00558.hp2
HG00621.hp1
NA19080.hp1
 intron_variant MODIFIER c.1032-3354A>G
c.1032-3354A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43690935
chr22:43691022 A
A
 G
G
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1032-3441T>C
c.1032-3441T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691022
chr22:43691353 A
A
 G
G
 2 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0267
a0006c0006t0001g0268
 2 HG01346.hp1
NA20805.hp2
HG01346.hp1
NA20805.hp2
 intron_variant MODIFIER c.1032-3772T>C
c.1032-3772T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691353
chr22:43691389 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1032-3808C>T
c.1032-3808C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691389
chr22:43691394 G
G
 A
A
 48 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(45): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
 48 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(45): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03491.hp1
HG03540.hp2
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.1032-3813C>T
c.1032-3813C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691394
chr22:43691438 A
A
 G
G
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1032-3857T>C
c.1032-3857T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691438
chr22:43691521 C
C
 T
T
 4 a0004c0005t0001g0021
a0004c0009t0001g0166
a0004c0009t0001g0168
others(1): Show 
a0004c0005t0001g0021
a0004c0009t0001g0166
a0004c0009t0001g0168
a0004c0009t0001g0176
 4 HG02135.hp1
NA18960.hp2
NA18999.hp2
others(1): Show 
HG02135.hp1
NA18960.hp2
NA18999.hp2
NA19064.hp2
 intron_variant MODIFIER c.1032-3940G>A
c.1032-3940G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691521
chr22:43691678 T
T
 C
C
 1 a0003c0003t0001g0216
a0003c0003t0001g0216
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.1032-4097A>G
c.1032-4097A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691678
chr22:43691895 C
C
 G
G
 278 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(275): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 278 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(275): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-4314G>C
c.1032-4314G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43691895
chr22:43692046 G
G
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1032-4465C>G
c.1032-4465C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43692046
chr22:43692110 CAAA
CAAA
 C
C
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-4532_1032-453
others(7): Show 
c.1032-4532_1032-4530delTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43692110
chr22:43692631 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1032-5050C>T
c.1032-5050C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43692631
chr22:43693387 T
T
 C
C
 109 a0001c0001t0001g0087
a0002c0002t0001g0111
a0002c0002t0001g0115
others(106): Show 
a0001c0001t0001g0087
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 109 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(106): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-5806A>G
c.1032-5806A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43693387
chr22:43693538 T
T
 C
C
 1 a0002c0002t0001g0246
a0002c0002t0001g0246
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1032-5957A>G
c.1032-5957A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43693538
chr22:43693777 G
G
 A
A
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.1032-6196C>T
c.1032-6196C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43693777
chr22:43693847 T
T
 G
G
 1 a0003c0003t0001g0207
a0003c0003t0001g0207
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1032-6266A>C
c.1032-6266A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43693847
chr22:43694043 G
G
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1032-6462C>G
c.1032-6462C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43694043
chr22:43694123 T
T
 C
C
 69 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(66): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0032c0042t0001g0275
 69 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(66): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02683.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-6542A>G
c.1032-6542A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43694123
chr22:43694220 G
G
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1032-6639C>G
c.1032-6639C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43694220
chr22:43694490 G
G
 A
A
 1 a0002c0002t0001g0246
a0002c0002t0001g0246
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1032-6909C>T
c.1032-6909C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43694490
chr22:43694506 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.1032-6925C>T
c.1032-6925C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43694506
chr22:43694705 A
A
 T
T
 2 a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0001g0076
a0001c0001t0001g0255
 2 NA18943.hp2
NA18967.hp1
NA18943.hp2
NA18967.hp1
 intron_variant MODIFIER c.1032-7124T>A
c.1032-7124T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43694705
chr22:43695031 A
A
 G
G
 13 a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0120
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03579.hp2
 intron_variant MODIFIER c.1032-7450T>C
c.1032-7450T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695031
chr22:43695035 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1032-7454C>T
c.1032-7454C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695035
chr22:43695116 A
A
 C
C
 1 a0001c0001t0003g0001
a0001c0001t0003g0001
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1032-7535T>G
c.1032-7535T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695116
chr22:43695215 C
C
 A
A
 36 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(33): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0023c0034t0001g0082
a0029c0031t0002g0012
a0032c0042t0001g0275
 36 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(33): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG06807.hp1
NA18954.hp1
NA19030.hp2
NA19043.hp2
NA20805.hp2
 intron_variant MODIFIER c.1032-7634G>T
c.1032-7634G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695215
chr22:43695316 G
G
 A
A
 1 a0002c0002t0001g0244
a0002c0002t0001g0244
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1032-7735C>T
c.1032-7735C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695316
chr22:43695601 C
C
 T
T
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1032-8020G>A
c.1032-8020G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695601
chr22:43695703 C
C
 T
T
 1 a0005c0004t0001g0127
a0005c0004t0001g0127
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1032-8122G>A
c.1032-8122G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695703
chr22:43695829 G
G
 A
A
 1 a0008c0008t0001g0038
a0008c0008t0001g0038
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.1032-8248C>T
c.1032-8248C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695829
chr22:43695852 T
T
 A
A
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1032-8271A>T
c.1032-8271A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695852
chr22:43695879 G
G
 A
A
 1 a0002c0021t0001g0179
a0002c0021t0001g0179
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1032-8298C>T
c.1032-8298C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695879
chr22:43695955 T
T
 G
G
 115 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(112): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 115 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(112): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-8374A>C
c.1032-8374A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43695955
chr22:43696018 A
A
 G
G
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0030c0032t0001g0126
 45 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(42): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG03209.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-8437T>C
c.1032-8437T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696018
chr22:43696229 A
A
 T
T
 49 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(46): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
 49 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(46): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.1032-8648T>A
c.1032-8648T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696229
chr22:43696257 C
C
 T
T
 6 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(3): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
 6 NA18950.hp2
NA18979.hp1
NA19060.hp2
others(3): Show 
NA18950.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.1032-8676G>A
c.1032-8676G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696257
chr22:43696289 A
A
 AC
AC
 145 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0006
others(142): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0032c0042t0001g0275
 145 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(142): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.1032-8709_1032-870
others(5): Show 
c.1032-8709_1032-8708insG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696289
chr22:43696316 G
G
 A
A
 108 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(105): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 108 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(105): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1032-8735C>T
c.1032-8735C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696316
chr22:43696473 C
C
 T
T
 1 a0005c0004t0001g0093
a0005c0004t0001g0093
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1032-8892G>A
c.1032-8892G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696473
chr22:43696516 G
G
 A
A
 145 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0006
others(142): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0029c0031t0002g0012
a0032c0042t0001g0275
 145 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(142): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.1032-8935C>T
c.1032-8935C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696516
chr22:43696562 G
G
 A
A
 1 a0003c0003t0001g0210
a0003c0003t0001g0210
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1032-8981C>T
c.1032-8981C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696562
chr22:43696803 G
G
 A
A
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1032-9222C>T
c.1032-9222C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696803
chr22:43696852 G
G
 A
A
 1 a0002c0002t0001g0244
a0002c0002t0001g0244
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1032-9271C>T
c.1032-9271C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696852
chr22:43696920 A
A
 G
G
 288 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(285): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 288 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(285): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-9339T>C
c.1032-9339T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696920
chr22:43696937 A
A
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1032-9356T>A
c.1032-9356T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43696937
chr22:43697018 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1032-9437G>T
c.1032-9437G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43697018
chr22:43697040 A
A
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1032-9459T>G
c.1032-9459T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43697040
chr22:43697087 T
T
 C
C
 1 a0002c0002t0001g0259
a0002c0002t0001g0259
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1032-9506A>G
c.1032-9506A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43697087
chr22:43697413 T
T
 C
C
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.1032-9832A>G
c.1032-9832A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43697413
chr22:43697894 G
G
 C
C
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1032-10313C>G
c.1032-10313C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43697894
chr22:43698208 G
G
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.1032-10627C>T
c.1032-10627C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43698208
chr22:43698359 C
C
 T
T
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1032-10778G>A
c.1032-10778G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43698359
chr22:43698396 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1032-10815G>A
c.1032-10815G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43698396
chr22:43698681 C
C
 T
T
 3 a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
 3 HG00140.hp2
HG00639.hp2
HG02683.hp1
HG00140.hp2
HG00639.hp2
HG02683.hp1
 intron_variant MODIFIER c.1032-11100G>A
c.1032-11100G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43698681
chr22:43698731 C
C
 T
T
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.1032-11150G>A
c.1032-11150G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43698731
chr22:43698983 C
C
 G
G
 1 a0004c0009t0001g0176
a0004c0009t0001g0176
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1032-11402G>C
c.1032-11402G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43698983
chr22:43699074 A
A
 ATG
ATG
 22 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(19): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 22 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(19): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1032-11495_1032-11
others(8): Show 
c.1032-11495_1032-11494dupCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699074
chr22:43699085 C
C
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1032-11504G>A
c.1032-11504G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699085
chr22:43699089 G
G
 A
A
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1032-11508C>T
c.1032-11508C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699089
chr22:43699257 G
G
 T
T
 39 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(36): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 39 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(36): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1032-11676C>A
c.1032-11676C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699257
chr22:43699323 T
T
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1032-11742A>G
c.1032-11742A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699323
chr22:43699400 C
C
 G
G
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1032-11819G>C
c.1032-11819G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699400
chr22:43699445 T
T
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1032-11864A>G
c.1032-11864A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699445
chr22:43699667 C
C
 T
T
 1 a0004c0012t0001g0094
a0004c0012t0001g0094
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1031+11808G>A
c.1031+11808G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699667
chr22:43699744 C
C
 T
T
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1031+11731G>A
c.1031+11731G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699744
chr22:43699782 A
A
 T
T
 183 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(180): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 183 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(180): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+11693T>A
c.1031+11693T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699782
chr22:43699859 G
G
 A
A
 1 a0003c0003t0001g0217
a0003c0003t0001g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1031+11616C>T
c.1031+11616C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699859
chr22:43699977 T
T
 C
C
 1 a0003c0003t0001g0230
a0003c0003t0001g0230
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.1031+11498A>G
c.1031+11498A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43699977
chr22:43700183 A
A
 G
G
 181 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 181 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+11292T>C
c.1031+11292T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700183
chr22:43700204 T
T
 G
G
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+11271A>C
c.1031+11271A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700204
chr22:43700216 T
T
 C
C
 1 a0008c0008t0001g0033
a0008c0008t0001g0033
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.1031+11259A>G
c.1031+11259A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700216
chr22:43700312 ATC
ATC
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+11161_1031+11
others(8): Show 
c.1031+11161_1031+11162delGA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700312
chr22:43700374 T
T
 G
G
 5 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(2): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0013t0001g0031
 5 HG01258.hp2
HG02004.hp2
NA18947.hp1
others(2): Show 
HG01258.hp2
HG02004.hp2
NA18947.hp1
NA18962.hp2
NA18965.hp1
 intron_variant MODIFIER c.1031+11101A>C
c.1031+11101A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700374
chr22:43700460 C
C
 G
G
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1031+11015G>C
c.1031+11015G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700460
chr22:43700461 G
G
 A
A
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+11014C>T
c.1031+11014C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700461
chr22:43700546 C
C
 T
T
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.1031+10929G>A
c.1031+10929G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700546
chr22:43700547 G
G
 A
A
 1 a0004c0005t0001g0021
a0004c0005t0001g0021
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1031+10928C>T
c.1031+10928C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700547
chr22:43700690 C
C
 T
T
 1 a0006c0006t0001g0257
a0006c0006t0001g0257
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1031+10785G>A
c.1031+10785G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700690
chr22:43700802 T
T
 C
C
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1031+10673A>G
c.1031+10673A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700802
chr22:43700865 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1031+10610G>A
c.1031+10610G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43700865
chr22:43701118 T
T
 C
C
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.1031+10357A>G
c.1031+10357A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701118
chr22:43701153 C
C
 G
G
 1 a0004c0005t0001g0089
a0004c0005t0001g0089
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.1031+10322G>C
c.1031+10322G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701153
chr22:43701461 G
G
 A
A
 78 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(75): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 78 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(75): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+10014C>T
c.1031+10014C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701461
chr22:43701493 T
T
 C
C
 78 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(75): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 78 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(75): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+9982A>G
c.1031+9982A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701493
chr22:43701619 CAT
CAT
 C
C
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1031+9854_1031+985
others(6): Show 
c.1031+9854_1031+9855delAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701619
chr22:43701649 T
T
 C
C
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1031+9826A>G
c.1031+9826A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701649
chr22:43701672 T
T
 C
C
 11 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(8): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 11 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(8): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+9803A>G
c.1031+9803A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701672
chr22:43701727 T
T
 TA
TA
 12 a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0191
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0239
a0001c0013t0001g0187
a0001c0013t0001g0188
a0014c0017t0001g0282
a0014c0017t0001g0283
a0028c0041t0001g0189
 12 HG00280.hp1
HG00280.hp2
HG01169.hp2
others(9): Show 
HG00280.hp1
HG00280.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp2
HG02109.hp2
HG02451.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp1
HG04115.hp1
NA20905.hp2
 intron_variant MODIFIER c.1031+9747dupT
c.1031+9747dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43701727
chr22:43702032 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1031+9443C>T
c.1031+9443C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702032
chr22:43702033 A
A
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1031+9442T>C
c.1031+9442T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702033
chr22:43702080 C
C
 A
A
 3 a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
 3 HG00280.hp1
HG01175.hp1
HG02451.hp1
HG00280.hp1
HG01175.hp1
HG02451.hp1
 intron_variant MODIFIER c.1031+9395G>T
c.1031+9395G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702080
chr22:43702105 C
C
 A
A
 1 a0001c0001t0007g0238
a0001c0001t0007g0238
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1031+9370G>T
c.1031+9370G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702105
chr22:43702122 C
C
 A
A
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.1031+9353G>T
c.1031+9353G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702122
chr22:43702304 C
C
 T
T
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.1031+9171G>A
c.1031+9171G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702304
chr22:43702340 A
A
 G
G
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.1031+9135T>C
c.1031+9135T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702340
chr22:43702609 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1031+8866A>G
c.1031+8866A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702609
chr22:43702900 C
C
 T
T
 1 a0004c0009t0001g0176
a0004c0009t0001g0176
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1031+8575G>A
c.1031+8575G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43702900
chr22:43703038 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1031+8437T>C
c.1031+8437T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703038
chr22:43703103 C
C
 G
G
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1031+8372G>C
c.1031+8372G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703103
chr22:43703267 C
C
 T
T
 4 a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0180
others(1): Show 
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0180
a0020c0048t0001g0177
 4 NA18941.hp1
NA18967.hp2
NA19010.hp1
others(1): Show 
NA18941.hp1
NA18967.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.1031+8208G>A
c.1031+8208G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703267
chr22:43703344 C
C
 A
A
 2 a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0088
a0004c0005t0001g0089
 2 HG02074.hp1
NA19007.hp2
HG02074.hp1
NA19007.hp2
 intron_variant MODIFIER c.1031+8131G>T
c.1031+8131G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703344
chr22:43703495 A
A
 G
G
 75 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(72): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+7980T>C
c.1031+7980T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703495
chr22:43703511 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1031+7964T>C
c.1031+7964T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703511
chr22:43703579 GAATA
GAATA
 G
G
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1031+7892_1031+789
others(8): Show 
c.1031+7892_1031+7895delTATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703579
chr22:43703608 T
T
 A
A
 1 a0006c0006t0001g0163
a0006c0006t0001g0163
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1031+7867A>T
c.1031+7867A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703608
chr22:43703716 G
G
 GA
GA
 28 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(25): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 28 HG01175.hp2
HG01433.hp1
HG01496.hp1
others(25): Show 
HG01175.hp2
HG01433.hp1
HG01496.hp1
HG02293.hp2
HG02622.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1031+7758dupT
c.1031+7758dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703716
chr22:43703754 C
C
 T
T
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1031+7721G>A
c.1031+7721G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703754
chr22:43703924 GA
GA
 G
G
 93 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(90): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0026c0028t0003g0003
a0031c0022t0001g0237
 93 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1031+7550delT
c.1031+7550delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43703924
chr22:43704055 C
C
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1031+7420G>C
c.1031+7420G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704055
chr22:43704311 C
C
 T
T
 74 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(71): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 74 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(71): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+7164G>A
c.1031+7164G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704311
chr22:43704377 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1031+7098A>G
c.1031+7098A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704377
chr22:43704411 T
T
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1031+7064A>G
c.1031+7064A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704411
chr22:43704449 T
T
 C
C
 21 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(18): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0026c0028t0003g0003
a0031c0022t0001g0237
 21 HG01175.hp2
HG01243.hp1
HG02055.hp2
others(18): Show 
HG01175.hp2
HG01243.hp1
HG02055.hp2
HG02293.hp2
HG02622.hp1
HG02630.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1031+7026A>G
c.1031+7026A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704449
chr22:43704452 C
C
 T
T
 2 a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0078
a0001c0001t0001g0081
 2 NA18939.hp1
NA18942.hp2
NA18939.hp1
NA18942.hp2
 intron_variant MODIFIER c.1031+7023G>A
c.1031+7023G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704452
chr22:43704535 T
T
 C
C
 1 a0002c0002t0001g0139
a0002c0002t0001g0139
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1031+6940A>G
c.1031+6940A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704535
chr22:43704579 T
T
 A
A
 1 a0029c0031t0002g0012
a0029c0031t0002g0012
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1031+6896A>T
c.1031+6896A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704579
chr22:43704716 C
C
 T
T
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.1031+6759G>A
c.1031+6759G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704716
chr22:43704717 G
G
 A
A
 1 a0020c0048t0001g0177
a0020c0048t0001g0177
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1031+6758C>T
c.1031+6758C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704717
chr22:43704832 GA
GA
 G
G
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1031+6642delT
c.1031+6642delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43704832
chr22:43705028 GATGAAAA
others(16): Show 
GATGAAAAAAGATATTCCATGCAA
 G
G
 2 a0003c0003t0001g0229
a0003c0003t0001g0231
a0003c0003t0001g0229
a0003c0003t0001g0231
 2 NA18961.hp1
NA18974.hp2
NA18961.hp1
NA18974.hp2
 intron_variant MODIFIER c.1031+6424_1031+644
others(27): Show 
c.1031+6424_1031+6446delTTGCATGGAATATCTTTTTTCAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705028
chr22:43705034 A
A
 G
G
 1 a0004c0005t0001g0249
a0004c0005t0001g0249
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1031+6441T>C
c.1031+6441T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705034
chr22:43705118 G
G
 A
A
 2 a0002c0021t0001g0250
a0004c0005t0001g0247
a0002c0021t0001g0250
a0004c0005t0001g0247
 2 HG02698.hp1
NA18963.hp2
HG02698.hp1
NA18963.hp2
 intron_variant MODIFIER c.1031+6357C>T
c.1031+6357C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705118
chr22:43705261 T
T
 C
C
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1031+6214A>G
c.1031+6214A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705261
chr22:43705436 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1031+6039G>A
c.1031+6039G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705436
chr22:43705470 T
T
 C
C
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+6005A>G
c.1031+6005A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705470
chr22:43705531 T
T
 C
C
 79 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(76): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 79 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(76): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+5944A>G
c.1031+5944A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705531
chr22:43705731 T
T
 G
G
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1031+5744A>C
c.1031+5744A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705731
chr22:43705848 C
C
 T
T
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.1031+5627G>A
c.1031+5627G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705848
chr22:43705913 C
C
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1031+5562G>A
c.1031+5562G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705913
chr22:43705938 A
A
 G
G
 11 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
others(8): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0008c0008t0001g0202
 11 HG00639.hp1
HG00735.hp1
HG02145.hp2
others(8): Show 
HG00639.hp1
HG00735.hp1
HG02145.hp2
HG02300.hp2
NA18963.hp1
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.1031+5537T>C
c.1031+5537T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43705938
chr22:43706136 A
A
 G
G
 78 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(75): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 78 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(75): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+5339T>C
c.1031+5339T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706136
chr22:43706156 C
C
 T
T
 19 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
others(16): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0032c0042t0001g0275
 19 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(16): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20805.hp2
 intron_variant MODIFIER c.1031+5319G>A
c.1031+5319G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706156
chr22:43706183 G
G
 C
C
 1 a0005c0004t0001g0105
a0005c0004t0001g0105
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1031+5292C>G
c.1031+5292C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706183
chr22:43706214 C
C
 T
T
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1031+5261G>A
c.1031+5261G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706214
chr22:43706403 C
C
 T
T
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1031+5072G>A
c.1031+5072G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706403
chr22:43706520 T
T
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+4955A>T
c.1031+4955A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706520
chr22:43706756 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.1031+4719G>A
c.1031+4719G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706756
chr22:43706779 C
C
 T
T
 78 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(75): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 78 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(75): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+4696G>A
c.1031+4696G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706779
chr22:43706794 A
A
 G
G
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1031+4681T>C
c.1031+4681T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706794
chr22:43706815 T
T
 C
C
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1031+4660A>G
c.1031+4660A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706815
chr22:43706822 C
C
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1031+4653G>T
c.1031+4653G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43706822
chr22:43707113 C
C
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1031+4362G>A
c.1031+4362G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43707113
chr22:43707268 C
C
 T
T
 1 a0003c0003t0001g0214
a0003c0003t0001g0214
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.1031+4207G>A
c.1031+4207G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43707268
chr22:43707413 G
G
 A
A
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1031+4062C>T
c.1031+4062C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43707413
chr22:43707626 T
T
 C
C
 2 a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0211
a0003c0003t0001g0212
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.1031+3849A>G
c.1031+3849A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43707626
chr22:43707995 C
C
 T
T
 10 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
others(7): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 10 HG00639.hp1
HG02145.hp2
HG02300.hp2
others(7): Show 
HG00639.hp1
HG02145.hp2
HG02300.hp2
NA18963.hp1
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.1031+3480G>A
c.1031+3480G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43707995
chr22:43708089 TA
TA
 T
T
 75 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(72): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0253
a0004c0012t0001g0134
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+3385delT
c.1031+3385delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708089
chr22:43708089 TAA
TAA
 T
T
 102 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(99): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0009
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0006c0006t0001g0277
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0016
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 102 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01515.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.1031+3384_1031+338
others(6): Show 
c.1031+3384_1031+3385delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708089
chr22:43708128 C
C
 A
A
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1031+3347G>T
c.1031+3347G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708128
chr22:43708160 G
G
 A
A
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1031+3315C>T
c.1031+3315C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708160
chr22:43708275 G
G
 A
A
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1031+3200C>T
c.1031+3200C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708275
chr22:43708287 A
A
 T
T
 181 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(178): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 181 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+3188T>A
c.1031+3188T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708287
chr22:43708320 C
C
 T
T
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+3155G>A
c.1031+3155G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708320
chr22:43708418 C
C
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1031+3057G>C
c.1031+3057G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708418
chr22:43708493 G
G
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1031+2982C>G
c.1031+2982C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708493
chr22:43708776 AG
AG
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+2698delC
c.1031+2698delC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708776
chr22:43708942 G
G
 A
A
 75 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(72): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
a0032c0042t0001g0275
 75 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(72): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+2533C>T
c.1031+2533C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43708942
chr22:43709111 G
G
 T
T
 178 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(175): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 178 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(175): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+2364C>A
c.1031+2364C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43709111
chr22:43709132 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1031+2343C>T
c.1031+2343C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43709132
chr22:43709140 G
G
 C
C
 11 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(8): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 11 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(8): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+2335C>G
c.1031+2335C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43709140
chr22:43709297 G
G
 A
A
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1031+2178C>T
c.1031+2178C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43709297
chr22:43709598 C
C
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1031+1877G>T
c.1031+1877G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43709598
chr22:43709896 T
T
 G
G
 69 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(66): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0028c0041t0001g0189
a0032c0042t0001g0275
 69 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(66): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG02004.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02683.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18954.hp1
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+1579A>C
c.1031+1579A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43709896
chr22:43709914 T
T
 C
C
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+1561A>G
c.1031+1561A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43709914
chr22:43710042 A
A
 G
G
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.1031+1433T>C
c.1031+1433T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710042
chr22:43710219 G
G
 T
T
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.1031+1256C>A
c.1031+1256C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710219
chr22:43710262 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1031+1213A>G
c.1031+1213A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710262
chr22:43710313 C
C
 T
T
 2 a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0072
a0003c0003t0001g0214
 2 HG01099.hp2
HG01943.hp2
HG01099.hp2
HG01943.hp2
 intron_variant MODIFIER c.1031+1162G>A
c.1031+1162G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710313
chr22:43710490 C
C
 T
T
 1 a0005c0020t0001g0169
a0005c0020t0001g0169
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1031+985G>A
c.1031+985G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710490
chr22:43710500 G
G
 C
C
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1031+975C>G
c.1031+975C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710500
chr22:43710581 C
C
 T
T
 179 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(176): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0022c0039t0001g0091
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 179 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(176): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+894G>A
c.1031+894G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710581
chr22:43710626 A
A
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.1031+849T>G
c.1031+849T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710626
chr22:43710646 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1031+829T>C
c.1031+829T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43710646
chr22:43711126 TAACTC
TAACTC
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1031+344_1031+348d
others(7): Show 
c.1031+344_1031+348delGAGTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43711126
chr22:43711413 T
T
 A
A
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1031+62A>T
c.1031+62A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 10/31 chr22 43711413
chr22:43711779 T
T
 C
C
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.883-156A>G
c.883-156A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43711779
chr22:43711789 C
C
 T
T
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.883-166G>A
c.883-166G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43711789
chr22:43711861 A
A
 T
T
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.883-238T>A
c.883-238T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43711861
chr22:43712088 C
C
 G
G
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.883-465G>C
c.883-465G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712088
chr22:43712117 C
C
 T
T
 220 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(217): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 220 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(217): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.883-494G>A
c.883-494G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712117
chr22:43712131 T
T
 A
A
 14 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(11): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0017c0025t0002g0011
a0029c0031t0002g0012
 14 HG02055.hp1
HG02109.hp1
HG02572.hp1
others(11): Show 
HG02055.hp1
HG02109.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.883-508A>T
c.883-508A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712131
chr22:43712161 C
C
 T
T
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 9 HG02717.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.883-538G>A
c.883-538G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712161
chr22:43712197 A
A
 G
G
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.883-574T>C
c.883-574T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712197
chr22:43712338 A
A
 AT
AT
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.883-716dupA
c.883-716dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712338
chr22:43712501 T
T
 C
C
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.883-878A>G
c.883-878A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712501
chr22:43712595 T
T
 G
G
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.883-972A>C
c.883-972A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712595
chr22:43712715 T
T
 G
G
 270 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(267): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 270 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(267): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.883-1092A>C
c.883-1092A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712715
chr22:43712789 CT
CT
 C
C
 49 a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
others(46): Show 
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0074
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0112
a0010c0011t0001g0113
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
 49 HG00323.hp1
HG00642.hp2
HG01070.hp1
others(46): Show 
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03130.hp1
HG03491.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18939.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.883-1167delA
c.883-1167delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712789
chr22:43712818 G
G
 A
A
 12 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(9): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 12 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(9): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
 intron_variant MODIFIER c.883-1195C>T
c.883-1195C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43712818
chr22:43713192 C
C
 T
T
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.883-1569G>A
c.883-1569G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713192
chr22:43713327 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.883-1704A>G
c.883-1704A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713327
chr22:43713384 A
A
 C
C
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.883-1761T>G
c.883-1761T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713384
chr22:43713457 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.883-1834C>T
c.883-1834C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713457
chr22:43713786 T
T
 C
C
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.883-2163A>G
c.883-2163A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713786
chr22:43713851 C
C
 T
T
 2 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0007
a0001c0001t0002g0008
 2 HG02809.hp2
HG03139.hp1
HG02809.hp2
HG03139.hp1
 intron_variant MODIFIER c.883-2228G>A
c.883-2228G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713851
chr22:43713936 C
C
 T
T
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.883-2313G>A
c.883-2313G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713936
chr22:43713981 T
T
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.883-2358A>C
c.883-2358A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43713981
chr22:43714218 A
A
 G
G
 108 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(105): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
 108 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(105): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.883-2595T>C
c.883-2595T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43714218
chr22:43714395 T
T
 C
C
 3 a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 3 HG01243.hp1
HG02630.hp1
NA20129.hp1
HG01243.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.882+2453A>G
c.882+2453A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43714395
chr22:43714532 G
G
 GA
GA
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.882+2315dupT
c.882+2315dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43714532
chr22:43714599 C
C
 T
T
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.882+2249G>A
c.882+2249G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43714599
chr22:43714625 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.882+2223G>A
c.882+2223G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43714625
chr22:43714636 A
A
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.882+2212T>C
c.882+2212T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43714636
chr22:43714645 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.882+2203A>G
c.882+2203A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43714645
chr22:43715094 A
A
 G
G
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.882+1754T>C
c.882+1754T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715094
chr22:43715143 A
A
 T
T
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.882+1705T>A
c.882+1705T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715143
chr22:43715186 A
A
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.882+1662T>A
c.882+1662T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715186
chr22:43715196 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.882+1652C>T
c.882+1652C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715196
chr22:43715230 C
C
 T
T
 1 a0001c0001t0001g0050
a0001c0001t0001g0050
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.882+1618G>A
c.882+1618G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715230
chr22:43715231 A
A
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.882+1617T>C
c.882+1617T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715231
chr22:43715277 T
T
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.882+1571A>C
c.882+1571A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715277
chr22:43715360 A
A
 T
T
 107 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(104): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 107 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(104): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.882+1488T>A
c.882+1488T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715360
chr22:43715362 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.882+1486G>A
c.882+1486G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715362
chr22:43715536 G
G
 A
A
 7 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(4): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
 7 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(4): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
HG03491.hp2
HG03492.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.882+1312C>T
c.882+1312C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715536
chr22:43715553 G
G
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.882+1295C>G
c.882+1295C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715553
chr22:43715745 T
T
 C
C
 1 a0002c0002t0001g0263
a0002c0002t0001g0263
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.882+1103A>G
c.882+1103A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715745
chr22:43715863 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.882+985G>A
c.882+985G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43715863
chr22:43716090 T
T
 C
C
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.882+758A>G
c.882+758A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43716090
chr22:43716189 G
G
 A
A
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.882+659C>T
c.882+659C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43716189
chr22:43716510 A
A
 C
C
 5 a0005c0004t0001g0234
a0005c0045t0001g0101
a0011c0015t0001g0099
others(2): Show 
a0005c0004t0001g0234
a0005c0045t0001g0101
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
 5 HG01070.hp1
HG01071.hp1
HG01261.hp2
others(2): Show 
HG01070.hp1
HG01071.hp1
HG01261.hp2
HG01433.hp2
NA20805.hp1
 intron_variant MODIFIER c.882+338T>G
c.882+338T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43716510
chr22:43716520 T
T
 A
A
 41 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(38): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0016c0026t0001g0152
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.882+328A>T
c.882+328A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43716520
chr22:43716636 T
T
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.882+212A>C
c.882+212A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 9/31 chr22 43716636
chr22:43717057 T
T
 C
C
 3 a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 3 HG01243.hp1
HG02630.hp1
NA20129.hp1
HG01243.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.758-85A>G
c.758-85A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43717057
chr22:43717200 T
T
 G
G
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.758-228A>C
c.758-228A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43717200
chr22:43717201 G
G
 C
C
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.758-229C>G
c.758-229C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43717201
chr22:43717276 C
C
 A
A
 2 a0007c0014t0002g0015
a0007c0014t0005g0014
a0007c0014t0002g0015
a0007c0014t0005g0014
 2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.758-304G>T
c.758-304G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43717276
chr22:43717371 G
G
 C
C
 7 a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
others(4): Show 
a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0284
 7 HG01255.hp1
HG01257.hp1
HG01516.hp1
others(4): Show 
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG03654.hp2
HG03669.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-399C>G
c.758-399C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43717371
chr22:43717579 A
A
 G
G
 1 a0007c0007t0001g0156
a0007c0007t0001g0156
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.758-607T>C
c.758-607T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43717579
chr22:43717933 G
G
 A
A
 251 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(248): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 251 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(248): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-961C>T
c.758-961C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43717933
chr22:43718044 GCATCCAT
others(25): Show 
GCATCCATCCATCCATCCACCCATCCATCCATC
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.758-1104_758-1073d
others(34): Show 
c.758-1104_758-1073delGATGGATGGATGGGTGGATGGATGGATG
GATG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718044
chr22:43718055 TCCATCCA
others(1): Show 
TCCATCCAC
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-1091_758-1084d
others(10): Show 
c.758-1091_758-1084delGTGGATGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718055
chr22:43718063 C
C
 CCCAT
CCCAT
 83 a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
others(80): Show 
a0001c0001t0001g0153
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0142
a0002c0021t0001g0179
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0028c0041t0001g0189
a0030c0032t0001g0126
 83 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(80): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp1
HG02074.hp2
HG02135.hp1
HG02155.hp2
HG02451.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18950.hp2
NA18951.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-1095_758-1092d
others(6): Show 
c.758-1095_758-1092dupATGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718063
chr22:43718063 C
C
 CCCATCCA
others(1): Show 
CCCATCCAT
 102 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(99): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0015c0024t0001g0128
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0031c0022t0001g0237
 102 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(99): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.758-1099_758-1092d
others(10): Show 
c.758-1099_758-1092dupATGGATGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718063
chr22:43718063 C
C
 CCCATCCA
others(5): Show 
CCCATCCATCCAT
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.758-1103_758-1092d
others(14): Show 
c.758-1103_758-1092dupATGGATGGATGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718063
chr22:43718063 C
C
 CCCATCCA
others(9): Show 
CCCATCCATCCATCCAT
 6 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(3): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0013
a0029c0031t0002g0012
 6 HG02055.hp1
HG02615.hp2
HG02809.hp2
others(3): Show 
HG02055.hp1
HG02615.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.758-1107_758-1092d
others(18): Show 
c.758-1107_758-1092dupATGGATGGATGGATGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718063
chr22:43718063 C
C
 CCCATCCA
others(13): Show 
CCCATCCATCCATCCATCCAT
 2 a0001c0001t0002g0010
a0017c0025t0002g0011
a0001c0001t0002g0010
a0017c0025t0002g0011
 2 HG02572.hp2
HG02717.hp2
HG02572.hp2
HG02717.hp2
 intron_variant MODIFIER c.758-1111_758-1092d
others(22): Show 
c.758-1111_758-1092dupATGGATGGATGGATGGATGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718063
chr22:43718462 T
T
 C
C
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-1490A>G
c.758-1490A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718462
chr22:43718476 A
A
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.758-1504T>G
c.758-1504T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718476
chr22:43718504 C
C
 T
T
 75 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(72): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
 75 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-1532G>A
c.758-1532G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718504
chr22:43718525 G
G
 A
A
 6 a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
others(3): Show 
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
 6 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(3): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
NA18960.hp2
NA18999.hp2
NA19064.hp2
 intron_variant MODIFIER c.758-1553C>T
c.758-1553C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718525
chr22:43718674 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.758-1702C>T
c.758-1702C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718674
chr22:43718736 A
A
 G
G
 75 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(72): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
 75 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-1764T>C
c.758-1764T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718736
chr22:43718786 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.758-1814G>A
c.758-1814G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718786
chr22:43718809 A
A
 G
G
 4 a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
others(1): Show 
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0026c0028t0003g0003
 4 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(1): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
 intron_variant MODIFIER c.758-1837T>C
c.758-1837T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718809
chr22:43718981 A
A
 G
G
 132 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(129): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
a0016c0026t0001g0152
a0020c0048t0001g0177
a0023c0034t0001g0082
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 132 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(129): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03834.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-2009T>C
c.758-2009T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43718981
chr22:43719035 G
G
 A
A
 1 a0026c0028t0003g0003
a0026c0028t0003g0003
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.758-2063C>T
c.758-2063C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719035
chr22:43719148 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.758-2176C>T
c.758-2176C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719148
chr22:43719191 G
G
 A
A
 2 a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0094
a0004c0012t0001g0095
 2 HG03834.hp2
HG03942.hp1
HG03834.hp2
HG03942.hp1
 intron_variant MODIFIER c.758-2219C>T
c.758-2219C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719191
chr22:43719228 C
C
 T
T
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.758-2256G>A
c.758-2256G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719228
chr22:43719321 T
T
 C
C
 1 a0005c0020t0001g0161
a0005c0020t0001g0161
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.758-2349A>G
c.758-2349A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719321
chr22:43719324 G
G
 A
A
 1 a0007c0007t0002g0005
a0007c0007t0002g0005
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.758-2352C>T
c.758-2352C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719324
chr22:43719340 A
A
 AAGCTTAC
others(9): Show 
AAGCTTACAGTGCGGTT
 1 a0002c0002t0001g0145
a0002c0002t0001g0145
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.758-2384_758-2369d
others(18): Show 
c.758-2384_758-2369dupAACCGCACTGTAAGCT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719340
chr22:43719361 T
T
 C
C
 1 a0008c0008t0001g0036
a0008c0008t0001g0036
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.758-2389A>G
c.758-2389A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719361
chr22:43719458 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.758-2486C>T
c.758-2486C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719458
chr22:43719478 C
C
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.758-2506G>A
c.758-2506G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719478
chr22:43719522 G
G
 T
T
 1 a0003c0003t0001g0227
a0003c0003t0001g0227
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.758-2550C>A
c.758-2550C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719522
chr22:43719623 T
T
 C
C
 2 a0001c0001t0001g0087
a0023c0034t0001g0082
a0001c0001t0001g0087
a0023c0034t0001g0082
 2 HG01433.hp1
HG03195.hp2
HG01433.hp1
HG03195.hp2
 intron_variant MODIFIER c.758-2651A>G
c.758-2651A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719623
chr22:43719953 G
G
 A
A
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.758-2981C>T
c.758-2981C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43719953
chr22:43720092 A
A
 C
C
 1 a0010c0011t0001g0114
a0010c0011t0001g0114
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.758-3120T>G
c.758-3120T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720092
chr22:43720135 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.758-3163T>C
c.758-3163T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720135
chr22:43720169 GA
GA
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-3198delT
c.758-3198delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720169
chr22:43720214 G
G
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.758-3242C>A
c.758-3242C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720214
chr22:43720284 G
G
 A
A
 58 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(55): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
 58 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(55): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.758-3312C>T
c.758-3312C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720284
chr22:43720350 T
T
 TA
TA
 215 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(212): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 215 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(212): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-3379dupT
c.758-3379dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720350
chr22:43720404 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.758-3432G>A
c.758-3432G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720404
chr22:43720459 C
C
 G
G
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.758-3487G>C
c.758-3487G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720459
chr22:43720640 G
G
 A
A
 93 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(90): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
a0014c0017t0001g0282
a0014c0017t0001g0283
a0026c0028t0003g0003
a0031c0022t0001g0237
 93 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.758-3668C>T
c.758-3668C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720640
chr22:43720658 A
A
 T
T
 1 a0002c0002t0001g0111
a0002c0002t0001g0111
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.758-3686T>A
c.758-3686T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720658
chr22:43720782 T
T
 C
C
 219 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(216): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0026c0028t0003g0003
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 219 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(216): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-3810A>G
c.758-3810A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720782
chr22:43720916 C
C
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.758-3944G>A
c.758-3944G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720916
chr22:43720930 C
C
 G
G
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-3958G>C
c.758-3958G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43720930
chr22:43721251 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.758-4279A>G
c.758-4279A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721251
chr22:43721254 T
T
 C
C
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-4282A>G
c.758-4282A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721254
chr22:43721262 C
C
 T
T
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-4290G>A
c.758-4290G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721262
chr22:43721301 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-4329G>A
c.758-4329G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721301
chr22:43721341 T
T
 G
G
 38 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(35): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0020c0048t0001g0177
a0030c0032t0001g0126
 38 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(35): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01496.hp1
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG04199.hp2
NA18906.hp1
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.758-4369A>C
c.758-4369A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721341
chr22:43721712 C
C
 T
T
 3 a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
 3 HG02615.hp1
HG03516.hp2
HG03540.hp1
HG02615.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.758-4740G>A
c.758-4740G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721712
chr22:43721804 G
G
 A
A
 131 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(128): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
a0016c0026t0001g0152
a0020c0048t0001g0177
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 131 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(128): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03834.hp1
HG04115.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-4832C>T
c.758-4832C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721804
chr22:43721921 T
T
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.758-4949A>G
c.758-4949A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721921
chr22:43721941 C
C
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-4969G>C
c.758-4969G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43721941
chr22:43722088 C
C
 T
T
 131 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(128): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0003c0003t0001g0232
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
a0016c0026t0001g0152
a0020c0048t0001g0177
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 131 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(128): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-5116G>A
c.758-5116G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722088
chr22:43722198 T
T
 C
C
 38 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(35): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0020c0048t0001g0177
a0030c0032t0001g0126
 38 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(35): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01496.hp1
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG04199.hp2
NA18906.hp1
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.758-5226A>G
c.758-5226A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722198
chr22:43722363 TA
TA
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-5392delT
c.758-5392delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722363
chr22:43722401 T
T
 A
A
 75 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(72): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0114
 75 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-5429A>T
c.758-5429A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722401
chr22:43722529 C
C
 CA
CA
 206 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(203): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 206 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(203): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-5558dupT
c.758-5558dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722529
chr22:43722529 C
C
 CAA
CAA
 14 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
others(11): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0002c0021t0001g0179
a0005c0004t0001g0127
a0008c0008t0001g0202
a0017c0025t0002g0011
 14 HG00639.hp1
HG00735.hp1
HG02145.hp2
others(11): Show 
HG00639.hp1
HG00735.hp1
HG02145.hp2
HG02300.hp2
HG02572.hp2
HG03669.hp2
NA18963.hp1
NA18967.hp2
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.758-5559_758-5558d
others(4): Show 
c.758-5559_758-5558dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722529
chr22:43722686 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.758-5714C>T
c.758-5714C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722686
chr22:43722763 T
T
 C
C
 9 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
others(6): Show 
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
 9 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(6): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02976.hp1
HG03540.hp2
HG03579.hp2
 intron_variant MODIFIER c.758-5791A>G
c.758-5791A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722763
chr22:43722769 CACTATTC
others(12): Show 
CACTATTCACCATAGCAAAG
 C
C
 2 a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0013t0001g0208
a0001c0013t0001g0233
 2 HG01081.hp1
HG03209.hp2
HG01081.hp1
HG03209.hp2
 intron_variant MODIFIER c.758-5816_758-5798d
others(21): Show 
c.758-5816_758-5798delCTTTGCTATGGTGAATAGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722769
chr22:43722892 A
A
 T
T
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-5920T>A
c.758-5920T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722892
chr22:43722907 C
C
 A
A
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-5935G>T
c.758-5935G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43722907
chr22:43723448 TA
TA
 T
T
 3 a0001c0001t0001g0040
a0001c0001t0001g0071
a0002c0002t0001g0145
a0001c0001t0001g0040
a0001c0001t0001g0071
a0002c0002t0001g0145
 3 HG01257.hp2
NA18974.hp1
NA19057.hp1
HG01257.hp2
NA18974.hp1
NA19057.hp1
 intron_variant MODIFIER c.758-6477delT
c.758-6477delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723448
chr22:43723725 A
A
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.758-6753T>C
c.758-6753T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723725
chr22:43723745 C
C
 T
T
 1 a0003c0003t0001g0225
a0003c0003t0001g0225
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.758-6773G>A
c.758-6773G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723745
chr22:43723844 G
G
 A
A
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.758-6872C>T
c.758-6872C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723844
chr22:43723861 T
T
 C
C
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.758-6889A>G
c.758-6889A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723861
chr22:43723883 C
C
 T
T
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.758-6911G>A
c.758-6911G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723883
chr22:43723905 T
T
 TA
TA
 4 a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
others(1): Show 
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
 4 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(1): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG02683.hp2
 intron_variant MODIFIER c.758-6934_758-6933i
others(3): Show 
c.758-6934_758-6933insT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723905
chr22:43723939 G
G
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.758-6967C>A
c.758-6967C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723939
chr22:43723995 T
T
 C
C
 219 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(216): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 219 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(216): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-7023A>G
c.758-7023A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43723995
chr22:43724100 C
C
 T
T
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.758-7128G>A
c.758-7128G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724100
chr22:43724118 A
A
 G
G
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.758-7146T>C
c.758-7146T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724118
chr22:43724122 G
G
 T
T
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.758-7150C>A
c.758-7150C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724122
chr22:43724241 T
T
 C
C
 38 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(35): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0020c0048t0001g0177
a0030c0032t0001g0126
 38 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(35): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01496.hp1
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG04199.hp2
NA18906.hp1
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.758-7269A>G
c.758-7269A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724241
chr22:43724367 C
C
 CT
CT
 39 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(36): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0252
a0018c0044t0001g0221
a0019c0043t0001g0224
 39 HG00280.hp1
HG00423.hp1
HG00597.hp1
others(36): Show 
HG00280.hp1
HG00423.hp1
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02135.hp1
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19000.hp1
NA19004.hp1
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+7331dupA
c.757+7331dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724367
chr22:43724367 CT
CT
 C
C
 186 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(183): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0006c0006t0001g0257
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 186 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(183): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+7331delA
c.757+7331delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724367
chr22:43724869 C
C
 T
T
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.757+6830G>A
c.757+6830G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724869
chr22:43724962 G
G
 C
C
 219 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(216): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 219 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(216): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+6737C>G
c.757+6737C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724962
chr22:43724988 A
A
 G
G
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.757+6711T>C
c.757+6711T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43724988
chr22:43725099 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.757+6600T>C
c.757+6600T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725099
chr22:43725122 G
G
 A
A
 2 a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0121
a0002c0002t0001g0129
 2 HG01884.hp1
HG02809.hp1
HG01884.hp1
HG02809.hp1
 intron_variant MODIFIER c.757+6577C>T
c.757+6577C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725122
chr22:43725134 C
C
 CT
CT
 33 a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0133
others(30): Show 
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0144
a0002c0002t0001g0146
a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0262
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0012t0001g0134
a0005c0004t0001g0109
a0005c0004t0001g0137
a0005c0045t0001g0101
a0006c0006t0001g0267
a0006c0006t0001g0279
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0012c0016t0001g0274
a0013c0018t0001g0092
a0021c0036t0001g0138
a0027c0030t0009g0290
 33 HG00621.hp2
HG01074.hp1
HG01081.hp2
others(30): Show 
HG00621.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01258.hp1
HG01433.hp2
HG01515.hp1
HG01884.hp2
HG01934.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02886.hp2
HG02896.hp2
HG02970.hp2
HG03130.hp1
HG03130.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp2
NA18944.hp2
NA18999.hp2
NA19007.hp1
NA19030.hp1
NA20805.hp2
 intron_variant MODIFIER c.757+6564dupA
c.757+6564dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725134
chr22:43725134 CT
CT
 C
C
 90 a0001c0001t0001g0028
a0001c0001t0001g0070
a0001c0001t0001g0071
others(87): Show 
a0001c0001t0001g0028
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0192
a0001c0001t0001g0200
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0002g0004
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0029t0001g0034
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0029c0031t0002g0012
a0030c0032t0001g0126
 90 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(87): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp2
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02135.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03654.hp2
HG03942.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18950.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp1
NA18972.hp1
NA18974.hp1
NA18979.hp1
NA18983.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19240.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+6564delA
c.757+6564delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725134
chr22:43725134 CTT
CTT
 C
C
 69 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(66): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0231
a0007c0014t0002g0017
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0031c0022t0001g0237
 69 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(66): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18972.hp2
NA18974.hp2
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19010.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.757+6563_757+6564d
others(4): Show 
c.757+6563_757+6564delAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725134
chr22:43725228 G
G
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.757+6471C>T
c.757+6471C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725228
chr22:43725291 G
G
 T
T
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.757+6408C>A
c.757+6408C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725291
chr22:43725325 G
G
 C
C
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.757+6374C>G
c.757+6374C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725325
chr22:43725388 G
G
 A
A
 1 a0010c0011t0001g0114
a0010c0011t0001g0114
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.757+6311C>T
c.757+6311C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725388
chr22:43725447 A
A
 G
G
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+6252T>C
c.757+6252T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725447
chr22:43725507 C
C
 A
A
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.757+6192G>T
c.757+6192G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725507
chr22:43725519 G
G
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+6180C>T
c.757+6180C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725519
chr22:43725605 C
C
 T
T
 2 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0267
a0006c0006t0001g0268
 2 HG01346.hp1
NA20805.hp2
HG01346.hp1
NA20805.hp2
 intron_variant MODIFIER c.757+6094G>A
c.757+6094G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725605
chr22:43725689 G
G
 A
A
 4 a0002c0002t0001g0147
a0004c0009t0001g0166
a0004c0009t0001g0168
others(1): Show 
a0002c0002t0001g0147
a0004c0009t0001g0166
a0004c0009t0001g0168
a0004c0009t0001g0176
 4 HG01346.hp2
NA18960.hp2
NA18999.hp2
others(1): Show 
HG01346.hp2
NA18960.hp2
NA18999.hp2
NA19064.hp2
 intron_variant MODIFIER c.757+6010C>T
c.757+6010C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725689
chr22:43725695 G
G
 C
C
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.757+6004C>G
c.757+6004C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725695
chr22:43725985 A
A
 C
C
 6 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(3): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0023c0034t0001g0082
 6 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(3): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
HG03195.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.757+5714T>G
c.757+5714T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43725985
chr22:43726049 T
T
 A
A
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.757+5650A>T
c.757+5650A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726049
chr22:43726276 C
C
 CA
CA
 13 a0001c0001t0001g0043
a0001c0001t0001g0057
a0001c0001t0001g0059
others(10): Show 
a0001c0001t0001g0043
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0196
a0001c0047t0001g0178
a0003c0003t0001g0212
a0006c0006t0001g0265
a0006c0006t0001g0278
a0007c0014t0002g0016
a0007c0014t0002g0017
a0014c0017t0001g0282
a0014c0017t0001g0283
 13 HG00323.hp2
HG00621.hp1
HG01517.hp1
others(10): Show 
HG00323.hp2
HG00621.hp1
HG01517.hp1
HG01517.hp2
HG02109.hp1
HG02300.hp2
HG02572.hp1
HG03491.hp2
HG03492.hp1
NA19000.hp2
NA19066.hp1
NA19080.hp1
NA19081.hp1
 intron_variant MODIFIER c.757+5422dupT
c.757+5422dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726276
chr22:43726276 CA
CA
 C
C
 117 a0001c0001t0001g0053
a0001c0001t0001g0060
a0001c0001t0001g0065
others(114): Show 
a0001c0001t0001g0053
a0001c0001t0001g0060
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0001g0191
a0001c0001t0001g0236
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0233
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0180
a0004c0009t0001g0168
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0005c0004t0001g0020
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0006c0006t0001g0276
a0006c0006t0001g0277
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
 117 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(114): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp1
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19080.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+5422delT
c.757+5422delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726276
chr22:43726276 CAA
CAA
 C
C
 40 a0001c0001t0001g0087
a0001c0001t0001g0255
a0001c0001t0001g0256
others(37): Show 
a0001c0001t0001g0087
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0013t0001g0208
a0001c0023t0001g0254
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0021t0001g0250
a0003c0003t0001g0072
a0003c0003t0001g0219
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0165
a0004c0005t0001g0175
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0160
a0010c0011t0001g0112
a0024c0033t0001g0181
 40 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(37): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp2
HG02074.hp1
HG02602.hp2
HG02622.hp1
HG02698.hp1
HG02809.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03654.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp1
NA18983.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19060.hp1
NA19064.hp2
NA19077.hp2
NA19079.hp2
NA20905.hp1
 intron_variant MODIFIER c.757+5421_757+5422d
others(4): Show 
c.757+5421_757+5422delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726276
chr22:43726276 CAAA
CAAA
 C
C
 26 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(23): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0145
a0003c0003t0001g0231
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0002g0004
a0007c0007t0002g0005
a0026c0028t0003g0003
a0030c0032t0001g0126
a0031c0022t0001g0237
 26 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(23): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG01257.hp2
HG01496.hp1
HG02293.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG04228.hp2
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18974.hp2
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.757+5420_757+5422d
others(5): Show 
c.757+5420_757+5422delTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726276
chr22:43726426 A
A
 G
G
 1 a0003c0003t0001g0227
a0003c0003t0001g0227
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.757+5273T>C
c.757+5273T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726426
chr22:43726433 A
A
 C
C
 1 a0003c0003t0001g0183
a0003c0003t0001g0183
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.757+5266T>G
c.757+5266T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726433
chr22:43726483 T
T
 G
G
 1 a0005c0004t0001g0104
a0005c0004t0001g0104
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.757+5216A>C
c.757+5216A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726483
chr22:43726493 A
A
 G
G
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.757+5206T>C
c.757+5206T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726493
chr22:43726770 G
G
 A
A
 78 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(75): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
 78 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(75): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.757+4929C>T
c.757+4929C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726770
chr22:43726822 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.757+4877C>T
c.757+4877C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726822
chr22:43726964 T
T
 C
C
 1 a0002c0002t0001g0117
a0002c0002t0001g0117
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.757+4735A>G
c.757+4735A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43726964
chr22:43727296 G
G
 A
A
 9 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(6): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 9 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(6): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.757+4403C>T
c.757+4403C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727296
chr22:43727394 T
T
 C
C
 211 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(208): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+4305A>G
c.757+4305A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727394
chr22:43727410 A
A
 G
G
 1 a0004c0005t0001g0175
a0004c0005t0001g0175
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.757+4289T>C
c.757+4289T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727410
chr22:43727468 A
A
 C
C
 83 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(80): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 83 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(80): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.757+4231T>G
c.757+4231T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727468
chr22:43727613 A
A
 T
T
 6 a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
others(3): Show 
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0180
a0020c0048t0001g0177
 6 HG02074.hp1
NA18941.hp1
NA18967.hp2
others(3): Show 
HG02074.hp1
NA18941.hp1
NA18967.hp2
NA19007.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.757+4086T>A
c.757+4086T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727613
chr22:43727622 G
G
 A
A
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.757+4077C>T
c.757+4077C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727622
chr22:43727637 C
C
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+4062G>A
c.757+4062G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727637
chr22:43727674 T
T
 G
G
 1 a0004c0009t0001g0170
a0004c0009t0001g0170
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.757+4025A>C
c.757+4025A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727674
chr22:43727831 C
C
 T
T
 1 a0001c0001t0007g0238
a0001c0001t0007g0238
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.757+3868G>A
c.757+3868G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727831
chr22:43727990 C
C
 T
T
 83 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(80): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 83 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(80): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.757+3709G>A
c.757+3709G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43727990
chr22:43728075 C
C
 T
T
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.757+3624G>A
c.757+3624G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728075
chr22:43728201 C
C
 T
T
 1 a0001c0001t0007g0238
a0001c0001t0007g0238
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.757+3498G>A
c.757+3498G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728201
chr22:43728304 T
T
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.757+3395A>C
c.757+3395A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728304
chr22:43728501 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.757+3198A>G
c.757+3198A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728501
chr22:43728629 G
G
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+3070C>T
c.757+3070C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728629
chr22:43728754 G
G
 A
A
 4 a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
others(1): Show 
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
 4 HG00099.hp2
HG00140.hp1
HG00735.hp2
others(1): Show 
HG00099.hp2
HG00140.hp1
HG00735.hp2
HG02683.hp2
 intron_variant MODIFIER c.757+2945C>T
c.757+2945C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728754
chr22:43728920 G
G
 A
A
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.757+2779C>T
c.757+2779C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728920
chr22:43728923 T
T
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.757+2776A>G
c.757+2776A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43728923
chr22:43729050 T
T
 C
C
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.757+2649A>G
c.757+2649A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729050
chr22:43729081 A
A
 G
G
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.757+2618T>C
c.757+2618T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729081
chr22:43729113 C
C
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.757+2586G>T
c.757+2586G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729113
chr22:43729157 C
C
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+2542G>A
c.757+2542G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729157
chr22:43729172 G
G
 C
C
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.757+2527C>G
c.757+2527C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729172
chr22:43729277 T
T
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.757+2422A>G
c.757+2422A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729277
chr22:43729430 G
G
 C
C
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.757+2269C>G
c.757+2269C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729430
chr22:43729552 A
A
 G
G
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.757+2147T>C
c.757+2147T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729552
chr22:43729553 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+2146G>A
c.757+2146G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729553
chr22:43729624 T
T
 G
G
 1 a0003c0003t0001g0216
a0003c0003t0001g0216
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.757+2075A>C
c.757+2075A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729624
chr22:43729680 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.757+2019G>A
c.757+2019G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729680
chr22:43729793 G
G
 T
T
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.757+1906C>A
c.757+1906C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729793
chr22:43729935 G
G
 C
C
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.757+1764C>G
c.757+1764C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729935
chr22:43729950 A
A
 C
C
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+1749T>G
c.757+1749T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729950
chr22:43729999 A
A
 AT
AT
 17 a0001c0001t0001g0059
a0002c0021t0001g0250
a0004c0005t0001g0021
others(14): Show 
a0001c0001t0001g0059
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0006c0006t0001g0276
 17 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(14): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG02135.hp1
HG02300.hp1
HG02698.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19060.hp1
NA19064.hp2
NA19079.hp2
 intron_variant MODIFIER c.757+1699dupA
c.757+1699dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729999
chr22:43729999 AT
AT
 A
A
 6 a0001c0001t0001g0078
a0007c0007t0001g0154
a0007c0007t0001g0155
others(3): Show 
a0001c0001t0001g0078
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0012c0016t0001g0281
 6 HG00639.hp2
HG02895.hp1
HG02897.hp2
others(3): Show 
HG00639.hp2
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
NA18942.hp2
 intron_variant MODIFIER c.757+1699delA
c.757+1699delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43729999
chr22:43730087 C
C
 T
T
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.757+1612G>A
c.757+1612G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730087
chr22:43730172 C
C
 T
T
 2 a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0207
a0003c0003t0001g0210
 2 HG00423.hp1
NA18944.hp1
HG00423.hp1
NA18944.hp1
 intron_variant MODIFIER c.757+1527G>A
c.757+1527G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730172
chr22:43730210 A
A
 G
G
 37 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(34): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0020c0048t0001g0177
 37 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(34): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01496.hp1
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG04199.hp2
NA18906.hp1
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.757+1489T>C
c.757+1489T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730210
chr22:43730221 A
A
 G
G
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+1478T>C
c.757+1478T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730221
chr22:43730259 A
A
 AAAGGATG
others(549): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAAGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAG
GGAAGGAGGGAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAA
GGAAGAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGG
AGGAAAGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGA
GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGA
AGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGA
AGGAGGG
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(558): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTTCCCTCC
TTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCC
TCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCC
CTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCTTTCCCTCCTTCCCTC
CCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCT
CCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(507): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGA
AGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAG
GAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAACGAGGGAA
GGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGGAAGGAGGGAAGGAG
GGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGA
GGGAGGGAAGGAGGG
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(516): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC
TCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCTTCCCTCCT
TCCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCGTTCCC
TCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCC
TTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC
TCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCCTCCCTCCCTCCCCTCC
TTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCC
CTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTC
CTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTC
CCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(522): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGAGGG
AGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAA
GGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAG
GAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAG
GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAG
GAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(531): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTT
TCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCT
CCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCC
CTCCCTCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTC
CCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCT
CCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCT
CCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCC
TCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCC
TCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCT
T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(531): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
CGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG
GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 4 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(1): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 4 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(1): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA19030.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(540): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCGTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCC
CTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC
CCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCT
CCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCT
CCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCC
TCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCC
TTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCC
CTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(556): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAG
GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAA
GGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAG
GGAGGGAAGGAGGG
 1 a0004c0012t0001g0019
a0004c0012t0001g0019
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(565): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG
TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT
TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC
TTCCTTCCCTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCC
CTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCT
TCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCT
TCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCC
TCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCC
TTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCC
CTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(531): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG
GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 5 a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0123
others(2): Show 
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0133
a0016c0026t0001g0152
 5 HG01069.hp1
HG02886.hp2
HG02896.hp2
others(2): Show 
HG01069.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03540.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(540): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCC
CTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC
CCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCT
CCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCT
CCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCC
TCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCC
TTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCC
CTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(540): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG
GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 7 a0004c0012t0001g0097
a0005c0004t0001g0103
a0005c0004t0001g0104
others(4): Show 
a0004c0012t0001g0097
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0109
a0005c0004t0001g0110
 7 NA18944.hp2
NA18946.hp1
NA18947.hp2
others(4): Show 
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(549): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC
TCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCC
TTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCT
TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC
TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC
TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC
TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC
CCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(548): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG
GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAA
GGAGGG
 52 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(49): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0129
a0002c0002t0001g0140
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0127
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0021c0036t0001g0138
a0030c0032t0001g0126
 52 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(49): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04199.hp1
NA18906.hp2
NA18961.hp2
NA18965.hp2
NA19007.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(557): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG
TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT
TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC
CTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC
CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT
TCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCT
CCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCC
TTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCC
CTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTC
CTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(565): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG
GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGA
GGGAGGGAGGGAGGGAAGGAGGG
 1 a0005c0004t0001g0130
a0005c0004t0001g0130
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(574): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCC
CTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCT
TTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCC
TCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCC
TTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC
TCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCC
TCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCC
TTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(523): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAGGGAGGGAA
GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAA
GGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 6 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
others(3): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 6 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(3): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(532): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCT
TCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCC
TCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCCCTCCTCCC
CTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCT
CCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCC
TCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCC
TCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCC
CTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCC
CTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCC
TT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(540): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGGAAGGAG
GGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAGGGAGGGAA
GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA
AGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 1 a0002c0002t0001g0244
a0002c0002t0001g0244
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(549): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG
TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCCTCCT
TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC
TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC
TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC
TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC
CCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(548): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA
GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAG
GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAA
GGAGGG
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(557): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTT
CCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCC
TACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC
CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT
TCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCT
CCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCC
TTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCC
CTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTC
CTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(540): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA
GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA
GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA
AGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0236
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0046t0001g0067
a0031c0022t0001g0237
 16 HG01175.hp2
HG02055.hp2
HG02293.hp2
others(13): Show 
HG01175.hp2
HG02055.hp2
HG02293.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA19011.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(549): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC
TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC
TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC
TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC
CCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(541): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAGGGAAGGGAAGGGAGGGG
AGGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGG
AGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGA
AGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGG
AAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(550): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCCTCCCCTCCCTTCCCTTCCCTCCCTACCTTC
CCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCT
CCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTC
CTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCC
CTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTC
CTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATC
CCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCT
CCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(643): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGGAAGGG
AGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAG
GGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGG
GAAGGAGGGAAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGG
GAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGGAG
GGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGG
G
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(652): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCTTCCCT
CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC
TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCT
CCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCC
TTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTTTCCCTCCTTCCCTC
CCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCT
TCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTCCCTTCC
CTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCC
TCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCT
CCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCC
TCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCA
TCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCC
CTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(713): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGGAAGGG
AGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAG
GGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGG
GAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAG
GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAG
GGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGAAGGGAGGGAAG
GAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGG
GAGGGAGGGAGGGAAGGAGGG
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(722): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCTTCCCT
CCCTTCCTCCCTCCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCT
CCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCT
CCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTT
CCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCT
CCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCC
CTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTT
CCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTT
CCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTC
CCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTC
CCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTT
CCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCT
TCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCT
TCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(647): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGGAAGGG
AGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAG
GGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGG
GAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAG
GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAG
GGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAG
GAGGG
 7 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
others(4): Show 
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 7 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(4): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(656): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCTTCCCT
CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC
TCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTT
TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC
TTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTTTCCCTCCTTC
CCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCT
ACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTCCC
TTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTTCCCTCCTT
CCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTC
CCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCT
TCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCC
TCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCC
TTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(549): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAG
GGAAGGAGGGAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAA
GGAAGAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGG
AGGAAAGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGA
GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGA
AGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGA
AGGAGGG
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(558): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTTCCCTCC
TTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCC
TCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCC
CTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTC
CCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCT
CCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(528): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAG
GGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGA
GGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGA
GGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGA
GGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 17 a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
others(14): Show 
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0277
a0006c0006t0001g0278
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0032c0042t0001g0275
 17 HG00140.hp2
HG00639.hp2
HG01243.hp1
others(14): Show 
HG00140.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02257.hp2
HG02630.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03453.hp1
HG03486.hp2
NA18954.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(537): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCC
TCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTC
CCTCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCT
CCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCC
CTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCC
CTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCC
CCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTC
CCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTC
CATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(520): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAG
GGAGGGAAGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAA
GAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGA
AAGGAGGAAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGA
GGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGA
AGGGAGGGAGGGAGGGAGGGAAGGAGGG
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(529): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTTCCTCCTT
TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC
TTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCTTCCCTCC
CTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCC
TCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCC
CTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCC
ATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTC
CCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTC
CATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(537): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAG
GGAGGGAAGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAA
GAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGA
AAGGAGGAAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGA
GGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGG
AGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 2 a0006c0006t0001g0279
a0006c0006t0001g0280
a0006c0006t0001g0279
a0006c0006t0001g0280
 2 HG02004.hp1
HG02293.hp1
HG02004.hp1
HG02293.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(546): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCC
TCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTC
CCTCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCT
CCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTC
CCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTC
CCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTT
CCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTT
CCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCT
CCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(544): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGAGGGA
GGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGG
GGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAG
GGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAA
GGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAGGGAG
GGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGA
GGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAG
GG
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(553): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG
TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT
TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC
CTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC
CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT
TCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCC
TCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCC
CTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCC
ATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTC
CCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(529): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGGAGGGA
GGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGG
AGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAA
GGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGG
AGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGA
AAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGG
AGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGG
AGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 1 a0006c0006t0001g0271
a0006c0006t0001g0271
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(538): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCC
TCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTC
CCTCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCT
CCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCC
CTCCCTCCCTCCCTCCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCC
CCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTC
CCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTT
CCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCT
CCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(437): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAA
GGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGG
AGGGAAGGGAGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGG
AGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGG
AAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGA
GGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGG
AGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 1 a0020c0048t0001g0177
a0020c0048t0001g0177
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(446): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTT
CCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCC
TACCTTCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCC
TCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTT
CCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTT
CCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCT
CCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(439): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAA
GGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGG
AGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG
GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAG
GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAA
GGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 27 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(24): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
 27 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(24): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(448): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTT
CCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCC
TACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC
CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT
TTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCC
TTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCC
CTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(427): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAA
GGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGG
AGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA
GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGGAAGGAG
GGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAG
GGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAG
GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(436): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTTCCCTCCTTCCC
TCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCT
TCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCC
CTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTT
CCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCC
CTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCC
CTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCC
ATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(550): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGGAAGGGAGGGAGGGAGGGAAGGGA
TGGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGA
GGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGG
GAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGA
GGGAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGG
AAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGG
AGGGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGA
AGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGG
AAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGG
AAGGAGGG
 1 a0015c0024t0001g0128
a0015c0024t0001g0128
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(559): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG
TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT
TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC
CTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC
CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCCTCCCTCCCTTCCCTCC
TTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCC
TCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCC
CTTCCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCT
CCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCC
TCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(561): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGAGG
GAAGGGAGGGAGGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAG
GGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGGAGGAGGGAAGGAGGGGAA
GGAGGGAAGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGG
AAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGAAGGGAGGGAAGGAGG
GAAGGAAGAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAA
AGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAG
GGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGA
GGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGA
GGGAGGGAGGGAAGGAGGG
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(570): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG
TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCCTCCT
TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC
TTCCCTCCTCCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCC
CTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTC
CCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTCCCTCCCTTC
CCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTC
CCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(565): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGATG
GAGGGAGGGGAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGAGG
GAAGGGAGGGAGGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAG
GGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGAGGGGAGGAGGGAAGGAGG
GGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGG
AGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGAAGGGAGGGAAG
GTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAGGGAGGGA
GGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGGGAAGGAG
GGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGA
GGGAGGGAGGGAGGGAAGGAGGG
 5 a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
others(2): Show 
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0074
 5 NA18939.hp2
NA18957.hp1
NA18984.hp1
others(2): Show 
NA18939.hp2
NA18957.hp1
NA18984.hp1
NA19064.hp1
NA19066.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(574): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC
TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC
TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC
TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTCCATCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(523): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA
GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA
GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAA
GGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 2 a0008c0008t0001g0036
a0008c0008t0001g0038
a0008c0008t0001g0036
a0008c0008t0001g0038
 2 NA18954.hp2
NA19079.hp1
NA18954.hp2
NA19079.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(532): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTT
TCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCT
CCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCC
CTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCT
CCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCC
TCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCC
TCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCC
CTCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCTTCCCTCC
CTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCC
TT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(540): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA
GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA
GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA
AGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 61 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(58): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0037
a0008c0008t0001g0202
a0008c0029t0001g0034
 61 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(58): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18960.hp1
NA18962.hp2
NA18965.hp1
NA18974.hp1
NA18979.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(549): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC
TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC
TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC
TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTCCATCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC
CCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(557): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA
GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA
GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA
AGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGA
GGGAGGGAAGGAGGG
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(566): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCC
TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT
TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC
CTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTC
CCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCC
TTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCC
TTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCC
CTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTC
CTCCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTC
CCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(565): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT
GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG
GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA
GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG
GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA
AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA
GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA
GGAGGGAAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA
GGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGA
GGGAGGGAGGGAGGGAAGGAGGG
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(574): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTTCCCTCCTTCCC
TCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTT
TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC
TTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCC
TTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC
TCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCC
TCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCC
TTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCC
CTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(545): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG
GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAAGGGA
TGGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGA
GGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGG
AGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAG
GGAGGGGAGGAGGGGAAGGGAGGGAAGGTAGGAAGGAGGGAAGGAAGAGG
AAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAAGGAGGA
AAGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGA
GGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGG
AGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGA
GGG
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.757+1439_757+1440i
others(554): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTCCTTTCCCTCCTTCCCT
CCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCTACCT
TCCCTCCCTTCCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTC
CCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCC
CTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCC
TCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCCTCCCTCCCTTC
CCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTC
CATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTT
CCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(546): Show 
AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG
GAGGGAGGGAAGGAGGGAAGGGGATGGAGGGAGGGAAGGAGGGAAGGGAG
GGAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGA
TGGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGGAAGGAGGGGAGGG
AGGGAGGGAGGGGAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGG
AGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAA
GGAGGGAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAA
GAGGAAGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGG
AAAGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGG
AGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGG
GAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGG
AGGG
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(555): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTC
CCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCT
CCCTTCCCTCCCTTCCCTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCC
CTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCCTCCTCCC
CTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTC
CCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTC
CATCCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCT
TCCCTCCCTCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(541): Show 
AAAGGATGGAGGGAGGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGAT
GGAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAG
GGAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGA
TGGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGA
GGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGG
AGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAG
GGAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGG
AAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGG
AGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGA
AGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGG
AAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG
 1 a0026c0028t0003g0003
a0026c0028t0003g0003
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(550): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT
TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC
TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT
TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC
CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC
CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC
TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC
TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC
TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC
CCTCCCCTCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730259 A
A
 AAAGGATG
others(541): Show 
AAAGGATGGAGGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGAT
GGAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGGAAGGGA
GGGAGGGAGGGGAGGGAGGGAAAGGAGGGAAGGGGGAGGAGGGAGGGGAA
GGGATGGAGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAG
GGAGGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGGAAGGGAGGGA
GGAGTGAGGAGGGAGGAGGGAGGGGGAAGGGAGGGAAGGGAGGAGGGGAA
GGGAGGGAAGGGAGGAGGGGAAGGGAGGAAGGTAGGGAAGGAGGGAAGGA
AGAGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGG
AAAGGAGGAAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGGAGGGAAG
GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGGA
AGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGGAGGGAGGGAAGGAGGG
 1 a0006c0006t0001g0276
a0006c0006t0001g0276
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.757+1439_757+1440i
others(550): Show 
c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCCTCCCTCCC
TTCCTTCCCTCCTTCCCTCCTTCCCCTCCCTTCCCTCCTTCCCTCCCTTC
CCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCCTCCCTCCCTCCCTTCCCT
CCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTT
CCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCTCCCT
TCCCCTCCTCCCTTCCCTCCCTTCCCCTCCTCCCTTCCCTCCCTTCCCCC
TCCCTCCTCCCTCCTCACTCCTCCCTCCCTTCCCCTCCTTCCCCTCCTTC
CCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTC
CCTCCTCCCCTCCTCCATCCCTTCCCCTCCCTCCTCCCCCTTCCCTCCTT
TCCCTCCCTCCCCTCCCTCCCTCCCTTCCCCTCCTTCCCTCCCTCCATCC
CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC
CCTCCCTCCCCTCCATCCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730259
chr22:43730262 G
G
 GGAT
GGAT
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+1436_757+1437i
others(5): Show 
c.757+1436_757+1437insATC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730262
chr22:43730267 C
C
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+1432G>C
c.757+1432G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730267
chr22:43730267 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.757+1432G>A
c.757+1432G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730267
chr22:43730271 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+1428C>T
c.757+1428C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730271
chr22:43730279 G
G
 GGAAGGAG
others(538): Show 
GGAAGGAGGGGAGGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGA
TGGAGGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGA
GGGACGGGAGGGAGGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGG
AGGGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGAGGGGAGGAGGGAAGGA
GGGGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAG
GGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGA
AGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGG
GAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAG
GAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGG
GAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAG
GAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGC
 38 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(35): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 38 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18961.hp1
NA18972.hp1
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+1419_757+1420i
others(547): Show 
c.757+1419_757+1420insGCTCCCTTCCCTCCTTCCCTCCCTCCCT
CCCTCCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCT
CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCT
CCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCT
TCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCC
CTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCC
TCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCC
CTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCC
CTCCCTCCCTCCCGTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTC
CCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTC
CCTCCCTCCCCTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730279
chr22:43730279 G
G
 GGAAGGAG
others(534): Show 
GGAAGGAGGGGAGGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGA
TGGAGGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGA
GGGACGGGAGGGAGGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGG
AGGGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGAGGGGAGGAGGGAAGGA
GGGGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAG
GGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGA
AGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGG
GAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAG
GAGGGAAGGAGGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGG
GAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGG
GAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGC
 1 a0003c0003t0001g0184
a0003c0003t0001g0184
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.757+1419_757+1420i
others(543): Show 
c.757+1419_757+1420insGCTCCCTTCCCTCCTTCCCTCCCTCCCT
CCCTCCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCT
CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCT
CCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTT
CCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCC
TACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC
CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCC
TTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCC
TTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCC
CTCCCTCCCGTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTC
CTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTC
CCTCCCCTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730279
chr22:43730279 G
G
 GGAAGGAG
others(536): Show 
GGAAGGAGGGGGAGGGAGGGAAGGGATGGAGGGAGGGAAGGAGGAAGGGA
TGGAGGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGGAGGAGGGAAAGGA
GGACGGGAGGGAGGGAGGGAAGGATGGAGGGAGGGGAGGAGGGAAGGGAG
GGGAGGAGGGAAGGAGGGGAGGGAGGGAGGGAGGGGAGGAGGGAAGGAGG
GGAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGG
AAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGGAGGGAAG
GGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGA
AGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGA
GGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGA
GGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGA
GGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGC
 1 a0003c0003t0001g0231
a0003c0003t0001g0231
 1 NA18974.hp2
NA18974.hp2
 intron_variant MODIFIER c.757+1419_757+1420i
others(545): Show 
c.757+1419_757+1420insGCTCCCTTCCCTCCTTCCCTCCCTCCCT
CCCTCCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCT
CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCT
CCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCT
CCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCT
TCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCC
CTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCC
TCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCC
CTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCTTCCC
TCCCTCCCTCCCGTCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCC
TCCTTCCCTCCCTCCATCCCTTCCTCCTTCCCTCCCTCCATCCCTTCCCT
CCCTCCCCCTCCTTC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730279
chr22:43730282 T
T
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+1417A>C
c.757+1417A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730282
chr22:43730313 C
C
 T
T
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.757+1386G>A
c.757+1386G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730313
chr22:43730412 T
T
 A
A
 1 a0004c0005t0001g0089
a0004c0005t0001g0089
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.757+1287A>T
c.757+1287A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730412
chr22:43730426 C
C
 T
T
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.757+1273G>A
c.757+1273G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730426
chr22:43730629 A
A
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.757+1070T>A
c.757+1070T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730629
chr22:43730637 C
C
 T
T
 6 a0001c0001t0001g0025
a0001c0001t0001g0191
a0001c0001t0001g0193
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0239
 6 HG01169.hp2
HG01255.hp2
HG02109.hp2
others(3): Show 
HG01169.hp2
HG01255.hp2
HG02109.hp2
HG03017.hp2
HG04115.hp1
NA20905.hp2
 intron_variant MODIFIER c.757+1062G>A
c.757+1062G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730637
chr22:43730659 T
T
 C
C
 1 a0006c0006t0001g0280
a0006c0006t0001g0280
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.757+1040A>G
c.757+1040A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43730659
chr22:43731041 G
G
 C
C
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.757+658C>G
c.757+658C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731041
chr22:43731070 G
G
 T
T
 89 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(86): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 89 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(86): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.757+629C>A
c.757+629C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731070
chr22:43731166 G
G
 A
A
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.757+533C>T
c.757+533C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731166
chr22:43731464 T
T
 G
G
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.757+235A>C
c.757+235A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731464
chr22:43731478 C
C
 G
G
 2 a0001c0001t0001g0032
a0001c0013t0001g0031
a0001c0001t0001g0032
a0001c0013t0001g0031
 2 HG01258.hp2
HG02004.hp2
HG01258.hp2
HG02004.hp2
 intron_variant MODIFIER c.757+221G>C
c.757+221G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731478
chr22:43731511 T
T
 G
G
 1 a0005c0004t0001g0104
a0005c0004t0001g0104
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.757+188A>C
c.757+188A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731511
chr22:43731588 A
A
 G
G
 1 a0002c0002t0001g0144
a0002c0002t0001g0144
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.757+111T>C
c.757+111T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731588
chr22:43731593 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+106C>T
c.757+106C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731593
chr22:43731663 T
T
 C
C
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.757+36A>G
c.757+36A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 8/31 chr22 43731663
chr22:43731882 T
T
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.645-71A>G
c.645-71A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43731882
chr22:43732390 C
C
 A
A
 1 a0005c0004t0001g0137
a0005c0004t0001g0137
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.645-579G>T
c.645-579G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732390
chr22:43732431 G
G
 A
A
 1 a0001c0035t0001g0235
a0001c0035t0001g0235
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.645-620C>T
c.645-620C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732431
chr22:43732465 C
C
 CT
CT
 162 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(159): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0008
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0122
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0261
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0003c0003t0001g0206
a0003c0003t0001g0217
a0003c0003t0001g0230
a0004c0005t0001g0252
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0006c0006t0001g0267
a0006c0006t0001g0271
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0017
a0008c0008t0001g0026
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0031c0022t0001g0237
 162 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(159): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp1
NA19004.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.645-655dupA
c.645-655dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732465
chr22:43732465 C
C
 CTT
CTT
 29 a0001c0001t0001g0030
a0001c0001t0001g0056
a0001c0001t0001g0059
others(26): Show 
a0001c0001t0001g0030
a0001c0001t0001g0056
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0200
a0001c0001t0001g0258
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0005c0004t0001g0107
a0005c0004t0001g0234
a0009c0010t0001g0148
a0030c0032t0001g0126
 29 HG01433.hp1
HG01884.hp1
HG01934.hp1
others(26): Show 
HG01433.hp1
HG01884.hp1
HG01934.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03491.hp1
HG03540.hp2
HG03579.hp2
NA18522.hp1
NA18962.hp2
NA19000.hp2
NA19005.hp1
NA19083.hp1
NA19087.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.645-656_645-655dup
others(2): Show 
c.645-656_645-655dupAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732465
chr22:43732512 G
G
 A
A
 2 a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0001g0076
a0001c0001t0001g0255
 2 NA18943.hp2
NA18967.hp1
NA18943.hp2
NA18967.hp1
 intron_variant MODIFIER c.645-701C>T
c.645-701C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732512
chr22:43732513 G
G
 C
C
 1 a0004c0005t0001g0089
a0004c0005t0001g0089
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.645-702C>G
c.645-702C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732513
chr22:43732774 C
C
 A
A
 13 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.645-963G>T
c.645-963G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732774
chr22:43732911 T
T
 A
A
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.645-1100A>T
c.645-1100A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732911
chr22:43732955 C
C
 G
G
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.645-1144G>C
c.645-1144G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43732955
chr22:43733095 T
T
 C
C
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.645-1284A>G
c.645-1284A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733095
chr22:43733131 G
G
 A
A
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.645-1320C>T
c.645-1320C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733131
chr22:43733137 A
A
 C
C
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.645-1326T>G
c.645-1326T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733137
chr22:43733230 A
A
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.645-1419T>C
c.645-1419T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733230
chr22:43733276 T
T
 G
G
 5 a0005c0004t0001g0234
a0005c0045t0001g0101
a0011c0015t0001g0099
others(2): Show 
a0005c0004t0001g0234
a0005c0045t0001g0101
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
 5 HG01070.hp1
HG01071.hp1
HG01261.hp2
others(2): Show 
HG01070.hp1
HG01071.hp1
HG01261.hp2
HG01433.hp2
NA20805.hp1
 intron_variant MODIFIER c.645-1465A>C
c.645-1465A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733276
chr22:43733499 T
T
 C
C
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.645-1688A>G
c.645-1688A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733499
chr22:43733567 A
A
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.645-1756T>A
c.645-1756T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733567
chr22:43733717 T
T
 C
C
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.645-1906A>G
c.645-1906A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733717
chr22:43733771 C
C
 T
T
 81 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(78): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 81 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(78): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.645-1960G>A
c.645-1960G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733771
chr22:43733785 T
T
 G
G
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.645-1974A>C
c.645-1974A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733785
chr22:43733909 A
A
 G
G
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.644+1948T>C
c.644+1948T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733909
chr22:43733978 A
A
 G
G
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.644+1879T>C
c.644+1879T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43733978
chr22:43734149 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.644+1708C>T
c.644+1708C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43734149
chr22:43734752 C
C
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.644+1105G>C
c.644+1105G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43734752
chr22:43735049 C
C
 T
T
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.644+808G>A
c.644+808G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735049
chr22:43735149 G
G
 A
A
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.644+708C>T
c.644+708C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735149
chr22:43735273 A
A
 G
G
 1 a0005c0004t0001g0020
a0005c0004t0001g0020
 1 NA18965.hp2
NA18965.hp2
 intron_variant MODIFIER c.644+584T>C
c.644+584T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735273
chr22:43735274 G
G
 A
A
 1 a0005c0004t0001g0020
a0005c0004t0001g0020
 1 NA18965.hp2
NA18965.hp2
 intron_variant MODIFIER c.644+583C>T
c.644+583C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735274
chr22:43735298 TCACCCTC
others(13): Show 
TCACCCTCCTGCCGCACACCC
 T
T
 128 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(125): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 128 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.644+539_644+558del
others(20): Show 
c.644+539_644+558delGGGTGTGCGGCAGGAGGGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735298
chr22:43735341 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.644+516G>A
c.644+516G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735341
chr22:43735377 G
G
 A
A
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.644+480C>T
c.644+480C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735377
chr22:43735438 C
C
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.644+419G>C
c.644+419G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735438
chr22:43735450 G
G
 C
C
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.644+407C>G
c.644+407C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735450
chr22:43735510 G
G
 A
A
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.644+347C>T
c.644+347C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735510
chr22:43735612 G
G
 A
A
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.644+245C>T
c.644+245C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735612
chr22:43735627 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.644+230G>A
c.644+230G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735627
chr22:43735633 G
G
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.644+224C>T
c.644+224C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735633
chr22:43735749 G
G
 A
A
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.644+108C>T
c.644+108C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 7/31 chr22 43735749
chr22:43736139 A
A
 T
T
 1 a0003c0003t0001g0184
a0003c0003t0001g0184
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.508-146T>A
c.508-146T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736139
chr22:43736216 T
T
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.508-223A>T
c.508-223A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736216
chr22:43736234 C
C
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-241G>C
c.508-241G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736234
chr22:43736581 G
G
 A
A
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-588C>T
c.508-588C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736581
chr22:43736622 G
G
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-629C>A
c.508-629C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736622
chr22:43736662 G
G
 C
C
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.508-669C>G
c.508-669C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736662
chr22:43736701 G
G
 A
A
 1 a0005c0045t0001g0101
a0005c0045t0001g0101
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.508-708C>T
c.508-708C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736701
chr22:43736795 C
C
 T
T
 1 a0010c0011t0001g0113
a0010c0011t0001g0113
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.508-802G>A
c.508-802G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736795
chr22:43736915 G
G
 T
T
 1 a0004c0005t0001g0251
a0004c0005t0001g0251
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.508-922C>A
c.508-922C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43736915
chr22:43737112 A
A
 T
T
 1 a0003c0003t0001g0209
a0003c0003t0001g0209
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.508-1119T>A
c.508-1119T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737112
chr22:43737174 A
A
 G
G
 266 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(263): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 266 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(263): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-1181T>C
c.508-1181T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737174
chr22:43737192 T
T
 C
C
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.508-1199A>G
c.508-1199A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737192
chr22:43737345 C
C
 A
A
 1 a0004c0005t0001g0175
a0004c0005t0001g0175
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.508-1352G>T
c.508-1352G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737345
chr22:43737412 A
A
 T
T
 1 a0005c0004t0001g0135
a0005c0004t0001g0135
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.508-1419T>A
c.508-1419T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737412
chr22:43737468 G
G
 T
T
 1 a0004c0005t0001g0251
a0004c0005t0001g0251
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.508-1475C>A
c.508-1475C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737468
chr22:43737547 G
G
 A
A
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.508-1554C>T
c.508-1554C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737547
chr22:43737650 C
C
 A
A
 8 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.508-1657G>T
c.508-1657G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737650
chr22:43737780 TATTC
TATTC
 T
T
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.508-1791_508-1788d
others(6): Show 
c.508-1791_508-1788delGAAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737780
chr22:43737811 TCACA
TCACA
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.508-1822_508-1819d
others(6): Show 
c.508-1822_508-1819delTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737811
chr22:43737833 TCA
TCA
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.508-1842_508-1841d
others(4): Show 
c.508-1842_508-1841delTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737833
chr22:43737877 G
G
 A
A
 1 a0001c0013t0001g0188
a0001c0013t0001g0188
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.508-1884C>T
c.508-1884C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737877
chr22:43737935 C
C
 T
T
 2 a0001c0001t0001g0046
a0001c0001t0001g0192
a0001c0001t0001g0046
a0001c0001t0001g0192
 2 HG02698.hp2
HG02738.hp2
HG02698.hp2
HG02738.hp2
 intron_variant MODIFIER c.508-1942G>A
c.508-1942G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737935
chr22:43737983 C
C
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.508-1990G>T
c.508-1990G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737983
chr22:43737984 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.508-1991C>T
c.508-1991C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737984
chr22:43737994 TCA
TCA
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.508-2003_508-2002d
others(4): Show 
c.508-2003_508-2002delTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43737994
chr22:43738075 C
C
 T
T
 81 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(78): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 81 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(78): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.508-2082G>A
c.508-2082G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43738075
chr22:43738155 C
C
 A
A
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.508-2162G>T
c.508-2162G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43738155
chr22:43738273 T
T
 C
C
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.508-2280A>G
c.508-2280A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43738273
chr22:43738359 A
A
 G
G
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.508-2366T>C
c.508-2366T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43738359
chr22:43738380 TCA
TCA
 T
T
 210 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(207): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.508-2389_508-2388d
others(4): Show 
c.508-2389_508-2388delTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43738380
chr22:43738512 CCAT
CCAT
 C
C
 50 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(47): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0020c0048t0001g0177
 50 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(47): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01496.hp1
HG02074.hp1
HG02135.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG04199.hp2
NA18906.hp1
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.508-2522_508-2520d
others(5): Show 
c.508-2522_508-2520delATG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43738512
chr22:43738908 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.508-2915G>A
c.508-2915G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43738908
chr22:43739141 C
C
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.508-3148G>A
c.508-3148G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43739141
chr22:43739142 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.508-3149C>T
c.508-3149C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43739142
chr22:43739220 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.508-3227G>A
c.508-3227G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43739220
chr22:43739221 C
C
 A
A
 6 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(3): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 6 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(3): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.508-3228G>T
c.508-3228G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43739221
chr22:43739338 C
C
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.508-3345G>A
c.508-3345G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43739338
chr22:43740001 TCCACCTG
others(4): Show 
TCCACCTGCCCC
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.508-4019_508-4009d
others(13): Show 
c.508-4019_508-4009delGGGGCAGGTGG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740001
chr22:43740177 G
G
 A
A
 79 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(76): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
 79 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(76): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.508-4184C>T
c.508-4184C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740177
chr22:43740282 C
C
 T
T
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.508-4289G>A
c.508-4289G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740282
chr22:43740293 C
C
 G
G
 1 a0003c0003t0001g0232
a0003c0003t0001g0232
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.508-4300G>C
c.508-4300G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740293
chr22:43740329 A
A
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.508-4336T>A
c.508-4336T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740329
chr22:43740488 C
C
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.508-4495G>T
c.508-4495G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740488
chr22:43740595 A
A
 G
G
 2 a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0211
a0003c0003t0001g0212
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.508-4602T>C
c.508-4602T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740595
chr22:43740714 C
C
 T
T
 2 a0002c0002t0001g0140
a0002c0002t0001g0143
a0002c0002t0001g0140
a0002c0002t0001g0143
 2 HG02602.hp2
HG03654.hp1
HG02602.hp2
HG03654.hp1
 intron_variant MODIFIER c.508-4721G>A
c.508-4721G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740714
chr22:43740841 G
G
 A
A
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.508-4848C>T
c.508-4848C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740841
chr22:43740887 C
C
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.508-4894G>A
c.508-4894G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740887
chr22:43740892 C
C
 T
T
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.508-4899G>A
c.508-4899G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43740892
chr22:43741339 T
T
 C
C
 136 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(133): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 136 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(133): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.508-5346A>G
c.508-5346A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741339
chr22:43741340 T
T
 C
C
 2 a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0207
a0003c0003t0001g0210
 2 HG00423.hp1
NA18944.hp1
HG00423.hp1
NA18944.hp1
 intron_variant MODIFIER c.508-5347A>G
c.508-5347A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741340
chr22:43741469 T
T
 C
C
 214 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(211): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 214 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(211): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.508-5476A>G
c.508-5476A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741469
chr22:43741475 C
C
 T
T
 1 a0004c0005t0001g0247
a0004c0005t0001g0247
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.508-5482G>A
c.508-5482G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741475
chr22:43741476 G
G
 A
A
 6 a0002c0002t0001g0122
a0010c0011t0001g0096
a0010c0011t0001g0098
others(3): Show 
a0002c0002t0001g0122
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 6 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(3): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
NA18906.hp2
 intron_variant MODIFIER c.508-5483C>T
c.508-5483C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741476
chr22:43741477 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.508-5484G>A
c.508-5484G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741477
chr22:43741571 G
G
 C
C
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-5578C>G
c.508-5578C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741571
chr22:43741837 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-5844C>T
c.508-5844C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741837
chr22:43741873 C
C
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.508-5880G>T
c.508-5880G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741873
chr22:43741898 C
C
 T
T
 1 a0011c0015t0001g0102
a0011c0015t0001g0102
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.508-5905G>A
c.508-5905G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43741898
chr22:43742038 C
C
 T
T
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.508-6045G>A
c.508-6045G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742038
chr22:43742382 T
T
 C
C
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.508-6389A>G
c.508-6389A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742382
chr22:43742452 C
C
 T
T
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.508-6459G>A
c.508-6459G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742452
chr22:43742453 G
G
 A
A
 2 a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0001g0076
a0001c0001t0001g0255
 2 NA18943.hp2
NA18967.hp1
NA18943.hp2
NA18967.hp1
 intron_variant MODIFIER c.508-6460C>T
c.508-6460C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742453
chr22:43742469 G
G
 C
C
 10 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(7): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0030c0032t0001g0126
 10 HG01496.hp1
HG02717.hp1
HG02723.hp1
others(7): Show 
HG01496.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.508-6476C>G
c.508-6476C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742469
chr22:43742523 T
T
 C
C
 1 a0011c0015t0001g0102
a0011c0015t0001g0102
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.508-6530A>G
c.508-6530A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742523
chr22:43742684 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.508-6691C>T
c.508-6691C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742684
chr22:43742878 T
T
 C
C
 1 a0010c0011t0001g0112
a0010c0011t0001g0112
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.508-6885A>G
c.508-6885A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742878
chr22:43742879 C
C
 T
T
 1 a0010c0011t0001g0112
a0010c0011t0001g0112
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.508-6886G>A
c.508-6886G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742879
chr22:43742984 T
T
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.508-6991A>C
c.508-6991A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43742984
chr22:43743319 C
C
 T
T
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.508-7326G>A
c.508-7326G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743319
chr22:43743414 G
G
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.508-7421C>A
c.508-7421C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743414
chr22:43743572 TGTGCAG
TGTGCAG
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.508-7585_508-7580d
others(8): Show 
c.508-7585_508-7580delCTGCAC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743572
chr22:43743574 T
T
 C
C
 1 a0002c0002t0001g0144
a0002c0002t0001g0144
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.508-7581A>G
c.508-7581A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743574
chr22:43743640 C
C
 T
T
 13 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(10): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0030c0032t0001g0126
 13 HG01884.hp1
HG01934.hp1
HG02145.hp1
others(10): Show 
HG01884.hp1
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.508-7647G>A
c.508-7647G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743640
chr22:43743705 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-7712G>A
c.508-7712G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743705
chr22:43743833 A
A
 C
C
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-7840T>G
c.508-7840T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743833
chr22:43743870 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.508-7877C>T
c.508-7877C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743870
chr22:43743915 GATGA
GATGA
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-7926_508-7923d
others(6): Show 
c.508-7926_508-7923delTCAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743915
chr22:43743989 AAATGGAT
others(5): Show 
AAATGGATGAATG
 A
A
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.508-8008_508-7997d
others(14): Show 
c.508-8008_508-7997delCATTCATCCATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43743989
chr22:43744021 GATGA
GATGA
 G
G
 5 a0003c0003t0001g0207
a0003c0003t0001g0210
a0007c0014t0002g0015
others(2): Show 
a0003c0003t0001g0207
a0003c0003t0001g0210
a0007c0014t0002g0015
a0007c0014t0005g0014
a0024c0033t0001g0181
 5 HG00423.hp1
HG03041.hp2
NA18944.hp1
others(2): Show 
HG00423.hp1
HG03041.hp2
NA18944.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.508-8032_508-8029d
others(6): Show 
c.508-8032_508-8029delTCAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744021
chr22:43744029 A
A
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.508-8036T>G
c.508-8036T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744029
chr22:43744080 GATGAATG
others(8): Show 
GATGAATGATGAATGA
 G
G
 5 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
others(2): Show 
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0019t0001g0124
a0002c0019t0001g0125
 5 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(2): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG03579.hp2
 intron_variant MODIFIER c.508-8102_508-8088d
others(17): Show 
c.508-8102_508-8088delTCATTCATCATTCAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744080
chr22:43744087 G
G
 GATGA
GATGA
 39 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(36): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0169
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0017c0025t0002g0011
a0020c0048t0001g0177
a0029c0031t0002g0012
 39 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(36): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG06807.hp1
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.508-8098_508-8095d
others(6): Show 
c.508-8098_508-8095dupTCAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744087
chr22:43744087 GATGA
GATGA
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-8098_508-8095d
others(6): Show 
c.508-8098_508-8095delTCAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744087
chr22:43744162 ATAGATGG
others(1): Show 
ATAGATGGG
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.508-8177_508-8170d
others(10): Show 
c.508-8177_508-8170delCCCATCTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744162
chr22:43744187 T
T
 A
A
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.508-8194A>T
c.508-8194A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744187
chr22:43744214 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.508-8221G>A
c.508-8221G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744214
chr22:43744226 G
G
 A
A
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.508-8233C>T
c.508-8233C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744226
chr22:43744266 A
A
 G
G
 1 a0003c0003t0001g0183
a0003c0003t0001g0183
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.508-8273T>C
c.508-8273T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744266
chr22:43744507 G
G
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.508-8514C>A
c.508-8514C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744507
chr22:43744894 T
T
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-8901A>C
c.508-8901A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744894
chr22:43744920 A
A
 G
G
 1 a0006c0006t0001g0163
a0006c0006t0001g0163
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.508-8927T>C
c.508-8927T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43744920
chr22:43745083 C
C
 T
T
 47 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(44): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 47 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(44): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02735.hp2
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-9090G>A
c.508-9090G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43745083
chr22:43745315 C
C
 T
T
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.508-9322G>A
c.508-9322G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43745315
chr22:43745387 C
C
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.508-9394G>A
c.508-9394G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43745387
chr22:43745393 C
C
 T
T
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.508-9400G>A
c.508-9400G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43745393
chr22:43745433 G
G
 A
A
 3 a0002c0002t0001g0111
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0002t0001g0111
a0002c0002t0004g0288
a0002c0002t0004g0289
 3 HG03041.hp1
HG03130.hp1
NA19240.hp1
HG03041.hp1
HG03130.hp1
NA19240.hp1
 intron_variant MODIFIER c.508-9440C>T
c.508-9440C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43745433
chr22:43745569 G
G
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.508-9576C>A
c.508-9576C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43745569
chr22:43745605 G
G
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.508-9612C>T
c.508-9612C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43745605
chr22:43746121 C
C
 T
T
 7 a0004c0012t0001g0097
a0005c0004t0001g0103
a0005c0004t0001g0104
others(4): Show 
a0004c0012t0001g0097
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0109
a0005c0004t0001g0110
 7 NA18944.hp2
NA18946.hp1
NA18947.hp2
others(4): Show 
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
 intron_variant MODIFIER c.507+9645G>A
c.507+9645G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746121
chr22:43746315 C
C
 T
T
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.507+9451G>A
c.507+9451G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746315
chr22:43746349 A
A
 T
T
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.507+9417T>A
c.507+9417T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746349
chr22:43746408 G
G
 A
A
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+9358C>T
c.507+9358C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746408
chr22:43746429 T
T
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.507+9337A>G
c.507+9337A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746429
chr22:43746440 A
A
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.507+9326T>G
c.507+9326T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746440
chr22:43746522 G
G
 A
A
 2 a0003c0003t0001g0220
a0003c0003t0001g0223
a0003c0003t0001g0220
a0003c0003t0001g0223
 2 HG00597.hp1
NA19091.hp2
HG00597.hp1
NA19091.hp2
 intron_variant MODIFIER c.507+9244C>T
c.507+9244C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746522
chr22:43746563 T
T
 C
C
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.507+9203A>G
c.507+9203A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746563
chr22:43746766 AT
AT
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.507+8999delA
c.507+8999delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746766
chr22:43746776 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.507+8990C>T
c.507+8990C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43746776
chr22:43747262 G
G
 A
A
 2 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0048
a0001c0001t0001g0049
 2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.507+8504C>T
c.507+8504C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43747262
chr22:43747352 C
C
 T
T
 44 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(41): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
a0026c0028t0003g0003
a0031c0022t0001g0237
 44 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01175.hp2
HG02074.hp1
HG02135.hp1
HG02293.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04199.hp2
HG04228.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.507+8414G>A
c.507+8414G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43747352
chr22:43747758 C
C
 T
T
 1 a0001c0001t0003g0001
a0001c0001t0003g0001
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.507+8008G>A
c.507+8008G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43747758
chr22:43747937 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.507+7829G>A
c.507+7829G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43747937
chr22:43748046 C
C
 T
T
 14 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(11): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0030c0032t0001g0126
 14 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(11): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03540.hp2
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.507+7720G>A
c.507+7720G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43748046
chr22:43748075 C
C
 T
T
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+7691G>A
c.507+7691G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43748075
chr22:43748445 T
T
 C
C
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.507+7321A>G
c.507+7321A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43748445
chr22:43748717 A
A
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.507+7049T>G
c.507+7049T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43748717
chr22:43748825 G
G
 C
C
 1 a0003c0003t0001g0218
a0003c0003t0001g0218
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.507+6941C>G
c.507+6941C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43748825
chr22:43748914 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.507+6852C>T
c.507+6852C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43748914
chr22:43748997 C
C
 A
A
 1 a0002c0002t0001g0120
a0002c0002t0001g0120
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.507+6769G>T
c.507+6769G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43748997
chr22:43749130 C
C
 T
T
 2 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0267
a0006c0006t0001g0268
 2 HG01346.hp1
NA20805.hp2
HG01346.hp1
NA20805.hp2
 intron_variant MODIFIER c.507+6636G>A
c.507+6636G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749130
chr22:43749338 C
C
 A
A
 1 a0003c0003t0001g0218
a0003c0003t0001g0218
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.507+6428G>T
c.507+6428G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749338
chr22:43749436 A
A
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.507+6330T>G
c.507+6330T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749436
chr22:43749536 G
G
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+6230C>A
c.507+6230C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749536
chr22:43749601 C
C
 CGCTGCTG
others(31): Show 
CGCTGCTGATCTGACAGGAGGCGGAGCTCAGGCGGTGAT
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.507+6127_507+6164d
others(40): Show 
c.507+6127_507+6164dupATCACCGCCTGAGCTCCGCCTCCTGTCA
GATCAGCAGC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749601
chr22:43749654 C
C
 T
T
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.507+6112G>A
c.507+6112G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749654
chr22:43749660 C
C
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.507+6106G>A
c.507+6106G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749660
chr22:43749684 C
C
 T
T
 1 a0007c0014t0002g0016
a0007c0014t0002g0016
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.507+6082G>A
c.507+6082G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749684
chr22:43749685 G
G
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.507+6081C>G
c.507+6081C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749685
chr22:43749772 G
G
 A
A
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.507+5994C>T
c.507+5994C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749772
chr22:43749843 G
G
 A
A
 2 a0004c0005t0001g0248
a0004c0005t0001g0253
a0004c0005t0001g0248
a0004c0005t0001g0253
 2 NA18951.hp1
NA19060.hp1
NA18951.hp1
NA19060.hp1
 intron_variant MODIFIER c.507+5923C>T
c.507+5923C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749843
chr22:43749848 A
A
 G
G
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.507+5918T>C
c.507+5918T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749848
chr22:43749973 G
G
 C
C
 1 a0004c0005t0001g0252
a0004c0005t0001g0252
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.507+5793C>G
c.507+5793C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43749973
chr22:43750169 A
A
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.507+5597T>C
c.507+5597T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43750169
chr22:43750418 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+5348C>T
c.507+5348C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43750418
chr22:43750484 A
A
 G
G
 1 a0030c0032t0001g0126
a0030c0032t0001g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.507+5282T>C
c.507+5282T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43750484
chr22:43750643 TTTTTG
TTTTTG
 T
T
 7 a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
others(4): Show 
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
 7 HG02083.hp2
NA18942.hp1
NA18943.hp1
others(4): Show 
HG02083.hp2
NA18942.hp1
NA18943.hp1
NA18954.hp2
NA19010.hp2
NA19011.hp1
NA19079.hp1
 intron_variant MODIFIER c.507+5118_507+5122d
others(7): Show 
c.507+5118_507+5122delCAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43750643
chr22:43750653 GCAAA
GCAAA
 G
G
 13 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.507+5109_507+5112d
others(6): Show 
c.507+5109_507+5112delTTTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43750653
chr22:43750903 C
C
 T
T
 6 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(3): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
 6 NA18950.hp2
NA18979.hp1
NA19060.hp2
others(3): Show 
NA18950.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.507+4863G>A
c.507+4863G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43750903
chr22:43750989 G
G
 A
A
 6 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(3): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 6 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(3): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.507+4777C>T
c.507+4777C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43750989
chr22:43751020 T
T
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.507+4746A>G
c.507+4746A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751020
chr22:43751038 T
T
 C
C
 57 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(54): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
 57 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(54): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+4728A>G
c.507+4728A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751038
chr22:43751132 T
T
 C
C
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0026c0028t0003g0003
a0031c0022t0001g0237
 16 HG01175.hp2
HG02293.hp2
HG02622.hp1
others(13): Show 
HG01175.hp2
HG02293.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.507+4634A>G
c.507+4634A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751132
chr22:43751157 A
A
 G
G
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.507+4609T>C
c.507+4609T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751157
chr22:43751193 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.507+4573C>T
c.507+4573C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751193
chr22:43751254 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.507+4512C>T
c.507+4512C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751254
chr22:43751421 C
C
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.507+4345G>A
c.507+4345G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751421
chr22:43751441 G
G
 T
T
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.507+4325C>A
c.507+4325C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751441
chr22:43751590 A
A
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+4176T>C
c.507+4176T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751590
chr22:43751617 A
A
 G
G
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+4149T>C
c.507+4149T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751617
chr22:43751665 G
G
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.507+4101C>A
c.507+4101C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751665
chr22:43751705 C
C
 T
T
 257 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(254): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
 257 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(254): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+4061G>A
c.507+4061G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751705
chr22:43751718 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.507+4048C>T
c.507+4048C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751718
chr22:43751761 A
A
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.507+4005T>G
c.507+4005T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751761
chr22:43751794 A
A
 G
G
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.507+3972T>C
c.507+3972T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751794
chr22:43751958 T
T
 C
C
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.507+3808A>G
c.507+3808A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43751958
chr22:43752051 G
G
 C
C
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+3715C>G
c.507+3715C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752051
chr22:43752053 A
A
 G
G
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+3713T>C
c.507+3713T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752053
chr22:43752116 A
A
 AT
AT
 133 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(130): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0223
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0005c0004t0001g0106
a0005c0004t0001g0135
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0029c0031t0002g0012
 133 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(130): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+3649dupA
c.507+3649dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752116
chr22:43752116 A
A
 ATT
ATT
 98 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
others(95): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0192
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0222
a0003c0003t0001g0225
a0004c0005t0001g0021
a0004c0005t0001g0089
a0004c0005t0001g0253
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0157
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
 98 HG00099.hp1
HG00642.hp2
HG01069.hp1
others(95): Show 
HG00099.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19066.hp2
NA19070.hp1
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.507+3648_507+3649d
others(4): Show 
c.507+3648_507+3649dupAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752116
chr22:43752116 A
A
 ATTT
ATTT
 20 a0002c0002t0001g0118
a0002c0021t0001g0179
a0002c0021t0001g0250
others(17): Show 
a0002c0002t0001g0118
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0175
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0009t0001g0166
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
a0023c0034t0001g0082
 20 HG00099.hp2
HG00140.hp1
HG00558.hp1
others(17): Show 
HG00099.hp2
HG00140.hp1
HG00558.hp1
HG02074.hp1
HG02683.hp2
HG02698.hp1
HG02896.hp2
HG03195.hp2
HG04199.hp2
NA18941.hp1
NA18960.hp2
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA20905.hp1
 intron_variant MODIFIER c.507+3647_507+3649d
others(5): Show 
c.507+3647_507+3649dupAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752116
chr22:43752116 A
A
 ATTTT
ATTTT
 10 a0002c0002t0001g0120
a0002c0019t0001g0124
a0002c0019t0001g0125
others(7): Show 
a0002c0002t0001g0120
a0002c0019t0001g0124
a0002c0019t0001g0125
a0004c0005t0001g0174
a0004c0005t0001g0180
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0009t0001g0167
a0004c0009t0001g0171
 10 HG00438.hp1
HG00621.hp2
HG00735.hp2
others(7): Show 
HG00438.hp1
HG00621.hp2
HG00735.hp2
HG01934.hp1
HG02280.hp2
HG03579.hp2
NA18945.hp1
NA18962.hp1
NA19000.hp1
NA19087.hp2
 intron_variant MODIFIER c.507+3646_507+3649d
others(6): Show 
c.507+3646_507+3649dupAAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752116
chr22:43752153 T
T
 C
C
 4 a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
others(1): Show 
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
a0003c0003t0001g0284
 4 HG01516.hp1
HG01517.hp1
HG03669.hp1
others(1): Show 
HG01516.hp1
HG01517.hp1
HG03669.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+3613A>G
c.507+3613A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752153
chr22:43752187 G
G
 A
A
 6 a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
others(3): Show 
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0180
a0020c0048t0001g0177
 6 HG02074.hp1
NA18941.hp1
NA18967.hp2
others(3): Show 
HG02074.hp1
NA18941.hp1
NA18967.hp2
NA19007.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.507+3579C>T
c.507+3579C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752187
chr22:43752228 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.507+3538G>A
c.507+3538G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752228
chr22:43752276 C
C
 A
A
 1 a0002c0002t0001g0140
a0002c0002t0001g0140
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.507+3490G>T
c.507+3490G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752276
chr22:43752352 A
A
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.507+3414T>A
c.507+3414T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752352
chr22:43752411 C
C
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.507+3355G>A
c.507+3355G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752411
chr22:43752471 C
C
 T
T
 56 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(53): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 56 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(53): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+3295G>A
c.507+3295G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752471
chr22:43752533 T
T
 C
C
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.507+3233A>G
c.507+3233A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752533
chr22:43752577 G
G
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.507+3189C>T
c.507+3189C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752577
chr22:43752695 C
C
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+3071G>A
c.507+3071G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752695
chr22:43752852 A
A
 G
G
 1 a0005c0004t0001g0132
a0005c0004t0001g0132
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.507+2914T>C
c.507+2914T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752852
chr22:43752859 C
C
 A
A
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.507+2907G>T
c.507+2907G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43752859
chr22:43753072 A
A
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.507+2694T>C
c.507+2694T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753072
chr22:43753095 G
G
 A
A
 45 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(42): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 45 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(42): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02735.hp2
HG03139.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+2671C>T
c.507+2671C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753095
chr22:43753138 A
A
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.507+2628T>G
c.507+2628T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753138
chr22:43753414 G
G
 A
A
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.507+2352C>T
c.507+2352C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753414
chr22:43753517 G
G
 A
A
 265 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(262): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 265 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(262): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+2249C>T
c.507+2249C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753517
chr22:43753670 G
G
 A
A
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.507+2096C>T
c.507+2096C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753670
chr22:43753700 T
T
 C
C
 1 a0005c0004t0001g0135
a0005c0004t0001g0135
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.507+2066A>G
c.507+2066A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753700
chr22:43753867 C
C
 T
T
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.507+1899G>A
c.507+1899G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43753867
chr22:43754055 A
A
 C
C
 286 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(283): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 286 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(283): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.507+1711T>G
c.507+1711T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43754055
chr22:43754766 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.507+1000A>G
c.507+1000A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43754766
chr22:43754900 G
G
 A
A
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.507+866C>T
c.507+866C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43754900
chr22:43754920 G
G
 A
A
 1 a0005c0004t0001g0104
a0005c0004t0001g0104
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.507+846C>T
c.507+846C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43754920
chr22:43755038 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.507+728A>G
c.507+728A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43755038
chr22:43755064 A
A
 G
G
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.507+702T>C
c.507+702T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43755064
chr22:43755064 A
A
 T
T
 2 a0003c0003t0001g0229
a0003c0003t0001g0231
a0003c0003t0001g0229
a0003c0003t0001g0231
 2 NA18961.hp1
NA18974.hp2
NA18961.hp1
NA18974.hp2
 intron_variant MODIFIER c.507+702T>A
c.507+702T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43755064
chr22:43755098 G
G
 T
T
 1 a0003c0003t0001g0222
a0003c0003t0001g0222
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.507+668C>A
c.507+668C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43755098
chr22:43755295 C
C
 T
T
 8 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0029c0031t0002g0012
 8 HG02055.hp1
HG02615.hp2
HG02717.hp2
others(5): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.507+471G>A
c.507+471G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43755295
chr22:43755392 T
T
 C
C
 7 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(4): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 7 HG02717.hp1
HG02895.hp1
HG02897.hp2
others(4): Show 
HG02717.hp1
HG02895.hp1
HG02897.hp2
HG03041.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
 intron_variant MODIFIER c.507+374A>G
c.507+374A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 6/31 chr22 43755392
chr22:43755902 G
G
 A
A
 1 a0002c0002t0001g0140
a0002c0002t0001g0140
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.441-70C>T
c.441-70C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43755902
chr22:43755903 A
A
 T
T
 1 a0002c0002t0001g0140
a0002c0002t0001g0140
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.441-71T>A
c.441-71T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43755903
chr22:43756150 TCTC
TCTC
 T
T
 11 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
others(8): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 11 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(8): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.441-321_441-319del
others(3): Show 
c.441-321_441-319delGAG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43756150
chr22:43756209 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.441-377C>T
c.441-377C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43756209
chr22:43756265 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.441-433C>T
c.441-433C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43756265
chr22:43756399 G
G
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.441-567C>T
c.441-567C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43756399
chr22:43756544 G
G
 A
A
 1 a0026c0028t0003g0003
a0026c0028t0003g0003
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.441-712C>T
c.441-712C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43756544
chr22:43756994 A
A
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.441-1162T>A
c.441-1162T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43756994
chr22:43757008 C
C
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.441-1176G>A
c.441-1176G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757008
chr22:43757060 G
G
 T
T
 1 a0004c0005t0001g0253
a0004c0005t0001g0253
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.441-1228C>A
c.441-1228C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757060
chr22:43757174 C
C
 T
T
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.441-1342G>A
c.441-1342G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757174
chr22:43757233 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.441-1401C>T
c.441-1401C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757233
chr22:43757314 G
G
 A
A
 1 a0015c0024t0001g0128
a0015c0024t0001g0128
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.441-1482C>T
c.441-1482C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757314
chr22:43757403 C
C
 T
T
 1 a0002c0019t0001g0124
a0002c0019t0001g0124
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.441-1571G>A
c.441-1571G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757403
chr22:43757482 G
G
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.441-1650C>T
c.441-1650C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757482
chr22:43757580 A
A
 C
C
 2 a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0072
a0003c0003t0001g0214
 2 HG01099.hp2
HG01943.hp2
HG01099.hp2
HG01943.hp2
 intron_variant MODIFIER c.441-1748T>G
c.441-1748T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757580
chr22:43757685 G
G
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.441-1853C>A
c.441-1853C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757685
chr22:43757817 T
T
 C
C
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.441-1985A>G
c.441-1985A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757817
chr22:43757930 T
T
 C
C
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.441-2098A>G
c.441-2098A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757930
chr22:43757963 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.441-2131C>T
c.441-2131C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43757963
chr22:43758120 A
A
 AT
AT
 140 a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
others(137): Show 
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 140 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(137): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441-2289dupA
c.441-2289dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43758120
chr22:43758310 G
G
 A
A
 1 a0003c0003t0001g0218
a0003c0003t0001g0218
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.441-2478C>T
c.441-2478C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43758310
chr22:43758349 T
T
 C
C
 1 a0028c0041t0001g0189
a0028c0041t0001g0189
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.441-2517A>G
c.441-2517A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43758349
chr22:43758374 T
T
 G
G
 107 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(104): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 107 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(104): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441-2542A>C
c.441-2542A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43758374
chr22:43758644 A
A
 G
G
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.441-2812T>C
c.441-2812T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43758644
chr22:43758961 G
G
 A
A
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.441-3129C>T
c.441-3129C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43758961
chr22:43759034 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.441-3202G>A
c.441-3202G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759034
chr22:43759092 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.441-3260C>T
c.441-3260C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759092
chr22:43759283 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.441-3451T>C
c.441-3451T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759283
chr22:43759451 C
C
 G
G
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.441-3619G>C
c.441-3619G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759451
chr22:43759453 A
A
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.441-3621T>A
c.441-3621T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759453
chr22:43759521 C
C
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.441-3689G>T
c.441-3689G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759521
chr22:43759669 C
C
 T
T
 1 a0004c0005t0001g0088
a0004c0005t0001g0088
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.441-3837G>A
c.441-3837G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759669
chr22:43759794 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.441-3962T>C
c.441-3962T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759794
chr22:43759855 T
T
 C
C
 48 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(45): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0023c0034t0001g0082
a0028c0041t0001g0189
 48 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(45): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02735.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441-4023A>G
c.441-4023A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43759855
chr22:43760048 T
T
 C
C
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.441-4216A>G
c.441-4216A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760048
chr22:43760181 G
G
 A
A
 1 a0007c0014t0002g0015
a0007c0014t0002g0015
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.441-4349C>T
c.441-4349C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760181
chr22:43760203 C
C
 CA
CA
 176 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0084
others(173): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0030c0032t0001g0126
a0031c0022t0001g0237
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.441-4372dupT
c.441-4372dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760203
chr22:43760211 AAAAAAAA
others(9): Show 
AAAAAAAAAGAAAAAAG
 A
A
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.441-4395_441-4380d
others(18): Show 
c.441-4395_441-4380delCTTTTTTCTTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760211
chr22:43760212 AAAAAAAA
others(8): Show 
AAAAAAAAGAAAAAAG
 A
A
 67 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(64): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 67 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(64): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.441-4395_441-4381d
others(17): Show 
c.441-4395_441-4381delCTTTTTTCTTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760212
chr22:43760213 AAAAAAAG
others(7): Show 
AAAAAAAGAAAAAAG
 A
A
 6 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(3): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0061
a0001c0013t0001g0031
 6 HG01258.hp2
HG01934.hp2
HG02004.hp2
others(3): Show 
HG01258.hp2
HG01934.hp2
HG02004.hp2
NA18947.hp1
NA18962.hp2
NA18965.hp1
 intron_variant MODIFIER c.441-4395_441-4382d
others(16): Show 
c.441-4395_441-4382delCTTTTTTCTTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760213
chr22:43760239 A
A
 G
G
 1 a0003c0003t0001g0228
a0003c0003t0001g0228
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.441-4407T>C
c.441-4407T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760239
chr22:43760305 G
G
 T
T
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.441-4473C>A
c.441-4473C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760305
chr22:43760449 C
C
 T
T
 1 a0012c0016t0001g0281
a0012c0016t0001g0281
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.441-4617G>A
c.441-4617G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760449
chr22:43760556 G
G
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.441-4724C>T
c.441-4724C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760556
chr22:43760655 A
A
 AT
AT
 77 a0001c0001t0001g0076
a0001c0001t0001g0087
a0001c0001t0001g0285
others(74): Show 
a0001c0001t0001g0076
a0001c0001t0001g0087
a0001c0001t0001g0285
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 77 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(74): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01175.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
NA18522.hp2
NA18943.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.440+4649dupA
c.440+4649dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760655
chr22:43760655 A
A
 ATTT
ATTT
 27 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(24): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 27 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(24): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.440+4647_440+4649d
others(5): Show 
c.440+4647_440+4649dupAAA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760655
chr22:43760655 AT
AT
 A
A
 76 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(73): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0029c0031t0002g0012
a0031c0022t0001g0237
 76 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(73): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01934.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02615.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.440+4649delA
c.440+4649delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760655
chr22:43760809 C
C
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.440+4496G>A
c.440+4496G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760809
chr22:43760823 C
C
 T
T
 1 a0003c0003t0001g0207
a0003c0003t0001g0207
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.440+4482G>A
c.440+4482G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760823
chr22:43760826 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.440+4479G>A
c.440+4479G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760826
chr22:43760908 C
C
 A
A
 2 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0007
a0001c0001t0002g0008
 2 HG02809.hp2
HG03139.hp1
HG02809.hp2
HG03139.hp1
 intron_variant MODIFIER c.440+4397G>T
c.440+4397G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43760908
chr22:43761061 G
G
 A
A
 55 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(52): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 55 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(52): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+4244C>T
c.440+4244C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43761061
chr22:43761064 G
G
 A
A
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.440+4241C>T
c.440+4241C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43761064
chr22:43761108 A
A
 G
G
 174 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(171): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
 174 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(171): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+4197T>C
c.440+4197T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43761108
chr22:43761184 T
T
 A
A
 242 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(239): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 242 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(239): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+4121A>T
c.440+4121A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43761184
chr22:43761357 T
T
 C
C
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+3948A>G
c.440+3948A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43761357
chr22:43761901 C
C
 T
T
 239 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(236): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
 239 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(236): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+3404G>A
c.440+3404G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43761901
chr22:43761914 T
T
 G
G
 8 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0029c0031t0002g0012
 8 HG02055.hp1
HG02615.hp2
HG02717.hp2
others(5): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.440+3391A>C
c.440+3391A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43761914
chr22:43762098 C
C
 T
T
 1 a0015c0024t0001g0128
a0015c0024t0001g0128
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.440+3207G>A
c.440+3207G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43762098
chr22:43762099 G
G
 A
A
 8 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0029c0031t0002g0012
 8 HG02055.hp1
HG02615.hp2
HG02717.hp2
others(5): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.440+3206C>T
c.440+3206C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43762099
chr22:43762287 T
T
 C
C
 1 a0001c0046t0001g0067
a0001c0046t0001g0067
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.440+3018A>G
c.440+3018A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43762287
chr22:43762329 G
G
 A
A
 4 a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0071
others(1): Show 
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0071
a0001c0013t0001g0031
 4 HG01258.hp2
HG02004.hp2
NA18962.hp2
others(1): Show 
HG01258.hp2
HG02004.hp2
NA18962.hp2
NA18974.hp1
 intron_variant MODIFIER c.440+2976C>T
c.440+2976C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43762329
chr22:43762610 A
A
 G
G
 55 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(52): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 55 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(52): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+2695T>C
c.440+2695T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43762610
chr22:43763083 G
G
 C
C
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.440+2222C>G
c.440+2222C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763083
chr22:43763240 C
C
 T
T
 55 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(52): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 55 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(52): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+2065G>A
c.440+2065G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763240
chr22:43763241 G
G
 A
A
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.440+2064C>T
c.440+2064C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763241
chr22:43763299 A
A
 G
G
 1 a0003c0003t0001g0223
a0003c0003t0001g0223
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.440+2006T>C
c.440+2006T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763299
chr22:43763335 G
G
 A
A
 1 a0004c0005t0001g0248
a0004c0005t0001g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.440+1970C>T
c.440+1970C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763335
chr22:43763717 T
T
 C
C
 44 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(41): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
a0026c0028t0003g0003
a0031c0022t0001g0237
 44 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01175.hp2
HG02074.hp1
HG02135.hp1
HG02293.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04199.hp2
HG04228.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.440+1588A>G
c.440+1588A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763717
chr22:43763725 T
T
 C
C
 44 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(41): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0023t0001g0254
a0001c0027t0001g0075
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
a0026c0028t0003g0003
a0031c0022t0001g0237
 44 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG01175.hp2
HG02074.hp1
HG02135.hp1
HG02293.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04199.hp2
HG04228.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.440+1580A>G
c.440+1580A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763725
chr22:43763938 T
T
 A
A
 3 a0002c0002t0001g0115
a0002c0002t0001g0116
a0030c0032t0001g0126
a0002c0002t0001g0115
a0002c0002t0001g0116
a0030c0032t0001g0126
 3 HG02145.hp1
HG02451.hp2
HG02717.hp1
HG02145.hp1
HG02451.hp2
HG02717.hp1
 intron_variant MODIFIER c.440+1367A>T
c.440+1367A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43763938
chr22:43764080 TAAG
TAAG
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.440+1222_440+1224d
others(5): Show 
c.440+1222_440+1224delCTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43764080
chr22:43764117 C
C
 T
T
 217 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(214): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0024c0033t0001g0181
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 217 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(214): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+1188G>A
c.440+1188G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43764117
chr22:43764201 C
C
 T
T
 7 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(4): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0029c0031t0002g0012
 7 HG02055.hp1
HG02615.hp2
HG02717.hp2
others(4): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.440+1104G>A
c.440+1104G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43764201
chr22:43764392 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.440+913C>T
c.440+913C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43764392
chr22:43764420 T
T
 A
A
 7 a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
others(4): Show 
a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0284
 7 HG01255.hp1
HG01257.hp1
HG01516.hp1
others(4): Show 
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG03654.hp2
HG03669.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+885A>T
c.440+885A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43764420
chr22:43764929 T
T
 TG
TG
 289 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(286): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.440+375_440+376ins
others(1): Show 
c.440+375_440+376insC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43764929
chr22:43765045 T
T
 C
C
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.440+260A>G
c.440+260A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 5/31 chr22 43765045
chr22:43765517 A
A
 C
C
 7 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(4): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0017c0025t0002g0011
 7 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(4): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.352-124T>G
c.352-124T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43765517
chr22:43765595 T
T
 C
C
 2 a0016c0026t0001g0152
a0017c0025t0002g0011
a0016c0026t0001g0152
a0017c0025t0002g0011
 2 HG01069.hp1
HG02572.hp2
HG01069.hp1
HG02572.hp2
 intron_variant MODIFIER c.352-202A>G
c.352-202A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43765595
chr22:43765786 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.352-393A>G
c.352-393A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43765786
chr22:43766077 G
G
 A
A
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.352-684C>T
c.352-684C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766077
chr22:43766096 C
C
 T
T
 55 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(52): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 55 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(52): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02451.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.352-703G>A
c.352-703G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766096
chr22:43766122 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.352-729C>T
c.352-729C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766122
chr22:43766243 G
G
 A
A
 1 a0012c0016t0006g0266
a0012c0016t0006g0266
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.352-850C>T
c.352-850C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766243
chr22:43766316 AGCCACCA
others(7): Show 
AGCCACCACACCTGG
 A
A
 1 a0013c0018t0001g0092
a0013c0018t0001g0092
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.352-937_352-924del
others(14): Show 
c.352-937_352-924delCCAGGTGTGGTGGC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766316
chr22:43766331 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.352-938G>A
c.352-938G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766331
chr22:43766386 T
T
 A
A
 14 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(11): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0030c0032t0001g0126
 14 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(11): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03540.hp2
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.352-993A>T
c.352-993A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766386
chr22:43766527 C
C
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.352-1134G>T
c.352-1134G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766527
chr22:43766592 G
G
 T
T
 1 a0005c0004t0001g0104
a0005c0004t0001g0104
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.352-1199C>A
c.352-1199C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766592
chr22:43766676 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.352-1283C>T
c.352-1283C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766676
chr22:43766686 T
T
 C
C
 1 a0004c0005t0001g0165
a0004c0005t0001g0165
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.352-1293A>G
c.352-1293A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766686
chr22:43766794 G
G
 A
A
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.352-1401C>T
c.352-1401C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766794
chr22:43766794 G
G
 C
C
 129 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(126): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 129 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(126): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.352-1401C>G
c.352-1401C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43766794
chr22:43767084 C
C
 T
T
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.352-1691G>A
c.352-1691G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767084
chr22:43767513 C
C
 A
A
 88 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(85): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 88 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(85): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.352-2120G>T
c.352-2120G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767513
chr22:43767643 G
G
 A
A
 78 a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
others(75): Show 
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
 78 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(75): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.352-2250C>T
c.352-2250C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767643
chr22:43767649 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.352-2256C>T
c.352-2256C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767649
chr22:43767657 T
T
 C
C
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.352-2264A>G
c.352-2264A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767657
chr22:43767735 C
C
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.352-2342G>T
c.352-2342G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767735
chr22:43767780 T
T
 C
C
 2 a0001c0001t0001g0046
a0001c0001t0001g0192
a0001c0001t0001g0046
a0001c0001t0001g0192
 2 HG02698.hp2
HG02738.hp2
HG02698.hp2
HG02738.hp2
 intron_variant MODIFIER c.352-2387A>G
c.352-2387A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767780
chr22:43767825 T
T
 TC
TC
 265 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(262): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 265 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(262): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.352-2433_352-2432i
others(3): Show 
c.352-2433_352-2432insG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767825
chr22:43767966 C
C
 T
T
 14 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(11): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0017c0025t0002g0011
a0029c0031t0002g0012
 14 HG02055.hp1
HG02109.hp1
HG02572.hp1
others(11): Show 
HG02055.hp1
HG02109.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.352-2573G>A
c.352-2573G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43767966
chr22:43768197 C
C
 T
T
 11 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
others(8): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 11 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(8): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.352-2804G>A
c.352-2804G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43768197
chr22:43768239 C
C
 G
G
 1 a0001c0013t0001g0188
a0001c0013t0001g0188
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.352-2846G>C
c.352-2846G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43768239
chr22:43768483 T
T
 C
C
 1 a0004c0005t0001g0165
a0004c0005t0001g0165
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.352-3090A>G
c.352-3090A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43768483
chr22:43768533 A
A
 C
C
 265 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(262): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 265 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(262): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.352-3140T>G
c.352-3140T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43768533
chr22:43768561 T
T
 C
C
 1 a0005c0020t0001g0169
a0005c0020t0001g0169
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.352-3168A>G
c.352-3168A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43768561
chr22:43768692 C
C
 T
T
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.352-3299G>A
c.352-3299G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43768692
chr22:43768910 G
G
 A
A
 2 a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0261
a0002c0002t0001g0262
 2 HG02559.hp2
HG02970.hp2
HG02559.hp2
HG02970.hp2
 intron_variant MODIFIER c.352-3517C>T
c.352-3517C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43768910
chr22:43769231 A
A
 G
G
 1 a0004c0005t0001g0253
a0004c0005t0001g0253
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.351+3661T>C
c.351+3661T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769231
chr22:43769260 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.351+3632T>C
c.351+3632T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769260
chr22:43769471 G
G
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.351+3421C>T
c.351+3421C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769471
chr22:43769553 C
C
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.351+3339G>T
c.351+3339G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769553
chr22:43769718 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.351+3174C>T
c.351+3174C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769718
chr22:43769731 A
A
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.351+3161T>C
c.351+3161T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769731
chr22:43769800 C
C
 T
T
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.351+3092G>A
c.351+3092G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769800
chr22:43769856 A
A
 AT
AT
 90 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(87): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0179
a0005c0004t0001g0108
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
a0031c0022t0001g0237
 90 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(87): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.351+3035dupA
c.351+3035dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769856
chr22:43769856 AT
AT
 A
A
 13 a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
others(10): Show 
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0014c0017t0001g0282
a0014c0017t0001g0283
a0024c0033t0001g0181
 13 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(10): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.351+3035delA
c.351+3035delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43769856
chr22:43770045 C
C
 T
T
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.351+2847G>A
c.351+2847G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770045
chr22:43770157 A
A
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.351+2735T>A
c.351+2735T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770157
chr22:43770281 G
G
 A
A
 1 a0004c0012t0001g0019
a0004c0012t0001g0019
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.351+2611C>T
c.351+2611C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770281
chr22:43770436 T
T
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.351+2456A>T
c.351+2456A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770436
chr22:43770550 T
T
 C
C
 13 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.351+2342A>G
c.351+2342A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770550
chr22:43770607 A
A
 G
G
 13 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(10): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0029c0031t0002g0012
 13 HG02055.hp1
HG02109.hp1
HG02572.hp1
others(10): Show 
HG02055.hp1
HG02109.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.351+2285T>C
c.351+2285T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770607
chr22:43770696 T
T
 C
C
 7 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(4): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0017c0025t0002g0011
 7 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(4): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.351+2196A>G
c.351+2196A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770696
chr22:43770928 GA
GA
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.351+1963delT
c.351+1963delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770928
chr22:43770937 A
A
 G
G
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.351+1955T>C
c.351+1955T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43770937
chr22:43771387 G
G
 A
A
 1 a0028c0041t0001g0189
a0028c0041t0001g0189
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.351+1505C>T
c.351+1505C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771387
chr22:43771443 A
A
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.351+1449T>A
c.351+1449T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771443
chr22:43771446 T
T
 A
A
 2 a0002c0002t0001g0118
a0004c0012t0001g0019
a0002c0002t0001g0118
a0004c0012t0001g0019
 2 HG02083.hp1
HG02896.hp2
HG02083.hp1
HG02896.hp2
 intron_variant MODIFIER c.351+1446A>T
c.351+1446A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771446
chr22:43771628 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.351+1264G>A
c.351+1264G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771628
chr22:43771708 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.351+1184G>A
c.351+1184G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771708
chr22:43771804 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.351+1088C>T
c.351+1088C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771804
chr22:43771819 G
G
 A
A
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.351+1073C>T
c.351+1073C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771819
chr22:43771932 G
G
 A
A
 1 a0002c0002t0001g0121
a0002c0002t0001g0121
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.351+960C>T
c.351+960C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771932
chr22:43771963 G
G
 A
A
 1 a0009c0010t0001g0150
a0009c0010t0001g0150
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.351+929C>T
c.351+929C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43771963
chr22:43772101 A
A
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.351+791T>C
c.351+791T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772101
chr22:43772217 C
C
 T
T
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.351+675G>A
c.351+675G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772217
chr22:43772258 G
G
 A
A
 2 a0024c0033t0001g0181
a0027c0030t0009g0290
a0024c0033t0001g0181
a0027c0030t0009g0290
 2 HG03041.hp2
HG03579.hp1
HG03041.hp2
HG03579.hp1
 intron_variant MODIFIER c.351+634C>T
c.351+634C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772258
chr22:43772345 G
G
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.351+547C>A
c.351+547C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772345
chr22:43772430 A
A
 G
G
 1 a0004c0009t0001g0166
a0004c0009t0001g0166
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.351+462T>C
c.351+462T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772430
chr22:43772437 C
C
 T
T
 1 a0001c0047t0001g0178
a0001c0047t0001g0178
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.351+455G>A
c.351+455G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772437
chr22:43772442 C
C
 T
T
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.351+450G>A
c.351+450G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772442
chr22:43772641 CA
CA
 C
C
 262 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
others(259): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 262 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(259): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.351+250delT
c.351+250delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772641
chr22:43772694 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.351+198G>T
c.351+198G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772694
chr22:43772802 G
G
 A
A
 1 a0028c0041t0001g0189
a0028c0041t0001g0189
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.351+90C>T
c.351+90C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 4/31 chr22 43772802
chr22:43773179 C
C
 T
T
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.140-76G>A
c.140-76G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773179
chr22:43773353 G
G
 A
A
 3 a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
 3 HG02615.hp1
HG03516.hp2
HG03540.hp1
HG02615.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.140-250C>T
c.140-250C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773353
chr22:43773512 T
T
 C
C
 83 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(80): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 83 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(80): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.140-409A>G
c.140-409A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773512
chr22:43773546 A
A
 G
G
 83 a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
others(80): Show 
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 83 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(80): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.140-443T>C
c.140-443T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773546
chr22:43773563 G
G
 A
A
 2 a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0242
a0002c0002t0001g0243
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.140-460C>T
c.140-460C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773563
chr22:43773585 C
C
 T
T
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.140-482G>A
c.140-482G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773585
chr22:43773614 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.140-511C>T
c.140-511C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773614
chr22:43773815 C
C
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.140-712G>T
c.140-712G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43773815
chr22:43774267 G
G
 C
C
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.140-1164C>G
c.140-1164C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774267
chr22:43774343 C
C
 T
T
 8 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0029c0031t0002g0012
 8 HG02055.hp1
HG02615.hp2
HG02717.hp2
others(5): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.140-1240G>A
c.140-1240G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774343
chr22:43774362 A
A
 T
T
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.140-1259T>A
c.140-1259T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774362
chr22:43774473 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.140-1370C>T
c.140-1370C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774473
chr22:43774517 G
G
 T
T
 92 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(89): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 92 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(89): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.140-1414C>A
c.140-1414C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774517
chr22:43774597 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-1494G>A
c.140-1494G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774597
chr22:43774600 C
C
 T
T
 1 a0003c0003t0001g0219
a0003c0003t0001g0219
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.140-1497G>A
c.140-1497G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774600
chr22:43774643 G
G
 A
A
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.140-1540C>T
c.140-1540C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774643
chr22:43774741 G
G
 A
A
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.140-1638C>T
c.140-1638C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774741
chr22:43774837 G
G
 T
T
 1 a0004c0005t0001g0251
a0004c0005t0001g0251
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.140-1734C>A
c.140-1734C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774837
chr22:43774985 A
A
 G
G
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-1882T>C
c.140-1882T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43774985
chr22:43775007 C
C
 A
A
 7 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(4): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0259
 7 HG02896.hp1
HG02897.hp1
HG02976.hp2
others(4): Show 
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.140-1904G>T
c.140-1904G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775007
chr22:43775008 T
T
 A
A
 7 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(4): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0259
 7 HG02896.hp1
HG02897.hp1
HG02976.hp2
others(4): Show 
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.140-1905A>T
c.140-1905A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775008
chr22:43775038 G
G
 C
C
 50 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(47): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0029c0031t0002g0012
 50 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(47): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-1935C>G
c.140-1935C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775038
chr22:43775324 C
C
 T
T
 28 a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
others(25): Show 
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 28 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(25): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.140-2221G>A
c.140-2221G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775324
chr22:43775390 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.140-2287C>T
c.140-2287C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775390
chr22:43775667 C
C
 T
T
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.140-2564G>A
c.140-2564G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775667
chr22:43775907 C
C
 T
T
 1 a0005c0004t0001g0135
a0005c0004t0001g0135
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.140-2804G>A
c.140-2804G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775907
chr22:43775922 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.140-2819G>A
c.140-2819G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43775922
chr22:43776102 G
G
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.140-2999C>G
c.140-2999C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776102
chr22:43776186 A
A
 C
C
 16 a0002c0002t0001g0122
a0007c0007t0001g0154
a0007c0007t0001g0155
others(13): Show 
a0002c0002t0001g0122
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0030c0032t0001g0126
 16 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(13): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp2
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.140-3083T>G
c.140-3083T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776186
chr22:43776201 C
C
 A
A
 76 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
others(73): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
 76 HG00323.hp1
HG01069.hp1
HG01070.hp1
others(73): Show 
HG00323.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.140-3098G>T
c.140-3098G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776201
chr22:43776349 C
C
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-3246G>C
c.140-3246G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776349
chr22:43776620 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.140-3517G>A
c.140-3517G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776620
chr22:43776677 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-3574C>T
c.140-3574C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776677
chr22:43776762 A
A
 G
G
 286 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(283): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 286 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(283): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-3659T>C
c.140-3659T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776762
chr22:43776779 G
G
 A
A
 1 a0029c0031t0002g0012
a0029c0031t0002g0012
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.140-3676C>T
c.140-3676C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43776779
chr22:43777109 T
T
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.140-4006A>C
c.140-4006A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777109
chr22:43777254 G
G
 C
C
 253 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(250): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0133
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 253 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(250): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-4151C>G
c.140-4151C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777254
chr22:43777254 G
G
 T
T
 8 a0002c0002t0001g0122
a0002c0002t0001g0129
a0009c0010t0001g0148
others(5): Show 
a0002c0002t0001g0122
a0002c0002t0001g0129
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 8 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(5): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02630.hp2
HG02809.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
 intron_variant MODIFIER c.140-4151C>A
c.140-4151C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777254
chr22:43777409 C
C
 T
T
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.140-4306G>A
c.140-4306G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777409
chr22:43777442 G
G
 A
A
 64 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 64 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.140-4339C>T
c.140-4339C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777442
chr22:43777650 A
A
 G
G
 174 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(171): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0023c0034t0001g0082
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
 174 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(171): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.139+4530T>C
c.139+4530T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777650
chr22:43777664 A
A
 C
C
 1 a0008c0008t0001g0026
a0008c0008t0001g0026
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.139+4516T>G
c.139+4516T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777664
chr22:43777960 A
A
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.139+4220T>C
c.139+4220T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43777960
chr22:43778287 C
C
 G
G
 1 a0012c0016t0006g0266
a0012c0016t0006g0266
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.139+3893G>C
c.139+3893G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43778287
chr22:43778564 T
T
 C
C
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.139+3616A>G
c.139+3616A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43778564
chr22:43778806 G
G
 A
A
 1 a0018c0044t0001g0221
a0018c0044t0001g0221
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.139+3374C>T
c.139+3374C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43778806
chr22:43778890 C
C
 CT
CT
 41 a0001c0001t0001g0040
a0001c0013t0001g0187
a0001c0013t0001g0188
others(38): Show 
a0001c0001t0001g0040
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.139+3289dupA
c.139+3289dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43778890
chr22:43779106 T
T
 C
C
 1 a0001c0013t0001g0187
a0001c0013t0001g0187
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.139+3074A>G
c.139+3074A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779106
chr22:43779133 A
A
 C
C
 15 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(12): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0191
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 15 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(12): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.139+3047T>G
c.139+3047T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779133
chr22:43779234 T
T
 C
C
 3 a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0240
a0002c0002t0001g0245
a0002c0002t0001g0246
 3 HG02615.hp1
HG03516.hp2
HG03540.hp1
HG02615.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.139+2946A>G
c.139+2946A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779234
chr22:43779335 A
A
 G
G
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.139+2845T>C
c.139+2845T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779335
chr22:43779689 A
A
 G
G
 286 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(283): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 286 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(283): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.139+2491T>C
c.139+2491T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779689
chr22:43779698 C
C
 T
T
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.139+2482G>A
c.139+2482G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779698
chr22:43779727 G
G
 A
A
 1 a0002c0021t0001g0179
a0002c0021t0001g0179
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.139+2453C>T
c.139+2453C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779727
chr22:43779735 G
G
 A
A
 11 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
others(8): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 11 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(8): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.139+2445C>T
c.139+2445C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779735
chr22:43779769 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.139+2411T>C
c.139+2411T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779769
chr22:43779930 A
A
 G
G
 1 a0006c0006t0001g0273
a0006c0006t0001g0273
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.139+2250T>C
c.139+2250T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779930
chr22:43779952 A
A
 G
G
 1 a0005c0004t0001g0132
a0005c0004t0001g0132
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.139+2228T>C
c.139+2228T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43779952
chr22:43780048 T
T
 C
C
 2 a0001c0023t0001g0254
a0031c0022t0001g0237
a0001c0023t0001g0254
a0031c0022t0001g0237
 2 HG02622.hp1
NA20129.hp2
HG02622.hp1
NA20129.hp2
 intron_variant MODIFIER c.139+2132A>G
c.139+2132A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780048
chr22:43780141 T
T
 C
C
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.139+2039A>G
c.139+2039A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780141
chr22:43780148 T
T
 C
C
 277 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(274): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
a0032c0042t0001g0275
 277 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(274): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.139+2032A>G
c.139+2032A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780148
chr22:43780486 C
C
 CA
CA
 126 a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0192
others(123): Show 
a0001c0001t0001g0070
a0001c0001t0001g0076
a0001c0001t0001g0192
a0001c0001t0001g0255
a0001c0001t0003g0001
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0220
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0234
a0005c0045t0001g0101
a0006c0006t0001g0163
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0014t0002g0017
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0016c0026t0001g0152
a0019c0043t0001g0224
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0030c0032t0001g0126
a0031c0022t0001g0237
 126 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(123): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02074.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.139+1693dupT
c.139+1693dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780486
chr22:43780486 C
C
 CAA
CAA
 36 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(33): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0003c0003t0001g0210
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0176
a0005c0004t0001g0020
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0137
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0007t0002g0005
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0028c0041t0001g0189
 36 HG00099.hp2
HG00140.hp1
HG00423.hp1
others(33): Show 
HG00099.hp2
HG00140.hp1
HG00423.hp1
HG00558.hp1
HG00621.hp2
HG01081.hp2
HG01175.hp1
HG02074.hp1
HG02572.hp2
HG02683.hp2
HG02698.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG04115.hp2
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18946.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18967.hp2
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.139+1692_139+1693d
others(4): Show 
c.139+1692_139+1693dupTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780486
chr22:43780486 C
C
 CAAA
CAAA
 7 a0001c0001t0001g0087
a0004c0005t0001g0021
a0004c0005t0001g0165
others(4): Show 
a0001c0001t0001g0087
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0005t0001g0174
a0004c0005t0001g0253
a0004c0009t0001g0171
a0020c0048t0001g0177
 7 HG00438.hp1
HG00735.hp2
HG01433.hp1
others(4): Show 
HG00438.hp1
HG00735.hp2
HG01433.hp1
HG02135.hp1
NA18951.hp1
NA19010.hp1
NA19079.hp2
 intron_variant MODIFIER c.139+1691_139+1693d
others(5): Show 
c.139+1691_139+1693dupTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780486
chr22:43780517 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.139+1663C>T
c.139+1663C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780517
chr22:43780616 G
G
 A
A
 1 a0002c0021t0001g0179
a0002c0021t0001g0179
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.139+1564C>T
c.139+1564C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43780616
chr22:43781186 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.139+994C>T
c.139+994C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781186
chr22:43781227 G
G
 A
A
 2 a0001c0023t0001g0254
a0031c0022t0001g0237
a0001c0023t0001g0254
a0031c0022t0001g0237
 2 HG02622.hp1
NA20129.hp2
HG02622.hp1
NA20129.hp2
 intron_variant MODIFIER c.139+953C>T
c.139+953C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781227
chr22:43781440 C
C
 T
T
 6 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(3): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 6 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(3): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.139+740G>A
c.139+740G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781440
chr22:43781482 C
C
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.139+698G>C
c.139+698G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781482
chr22:43781637 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.139+543C>T
c.139+543C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781637
chr22:43781638 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.139+542C>T
c.139+542C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781638
chr22:43781677 C
C
 T
T
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.139+503G>A
c.139+503G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781677
chr22:43781740 T
T
 C
C
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.139+440A>G
c.139+440A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781740
chr22:43781759 G
G
 A
A
 3 a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
 3 HG00280.hp1
HG01175.hp1
HG02451.hp1
HG00280.hp1
HG01175.hp1
HG02451.hp1
 intron_variant MODIFIER c.139+421C>T
c.139+421C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781759
chr22:43781946 C
C
 T
T
 70 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(67): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 70 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(67): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.139+234G>A
c.139+234G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781946
chr22:43781958 C
C
 T
T
 1 a0006c0006t0001g0270
a0006c0006t0001g0270
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.139+222G>A
c.139+222G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43781958
chr22:43782092 A
A
 G
G
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.139+88T>C
c.139+88T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 3/31 chr22 43782092
chr22:43782351 C
C
 T
T
 1 a0006c0006t0001g0267
a0006c0006t0001g0267
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.-7-26G>A
c.-7-26G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782351
chr22:43782392 CT
CT
 C
C
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-7-68delA
c.-7-68delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782392
chr22:43782578 C
C
 A
A
 3 a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 3 NA18999.hp1
NA19009.hp1
NA19084.hp1
NA18999.hp1
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.-7-253G>T
c.-7-253G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782578
chr22:43782597 C
C
 A
A
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.-7-272G>T
c.-7-272G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782597
chr22:43782830 G
G
 C
C
 65 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(62): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 65 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(62): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-505C>G
c.-7-505C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782830
chr22:43782840 A
A
 C
C
 65 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(62): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 65 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(62): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-515T>G
c.-7-515T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782840
chr22:43782841 T
T
 C
C
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-516A>G
c.-7-516A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782841
chr22:43782941 TC
TC
 T
T
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-617delG
c.-7-617delG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43782941
chr22:43783077 TATC
TATC
 T
T
 6 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(3): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
 6 NA18950.hp2
NA18979.hp1
NA19060.hp2
others(3): Show 
NA18950.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.-7-755_-7-753delGA
others(1): Show 
c.-7-755_-7-753delGAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43783077
chr22:43783225 T
T
 C
C
 35 a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
others(32): Show 
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
 35 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(32): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-900A>G
c.-7-900A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43783225
chr22:43783247 G
G
 A
A
 73 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(70): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
 73 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(70): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-922C>T
c.-7-922C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43783247
chr22:43783254 A
A
 G
G
 81 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(78): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
a0031c0022t0001g0237
 81 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(78): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.-7-929T>C
c.-7-929T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43783254
chr22:43783502 G
G
 A
A
 1 a0005c0004t0001g0130
a0005c0004t0001g0130
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.-7-1177C>T
c.-7-1177C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43783502
chr22:43783756 A
A
 G
G
 2 a0004c0005t0001g0180
a0020c0048t0001g0177
a0004c0005t0001g0180
a0020c0048t0001g0177
 2 NA19010.hp1
NA19087.hp2
NA19010.hp1
NA19087.hp2
 intron_variant MODIFIER c.-7-1431T>C
c.-7-1431T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43783756
chr22:43783994 G
G
 A
A
 11 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
others(8): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 11 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(8): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-7-1669C>T
c.-7-1669C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43783994
chr22:43784200 C
C
 T
T
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-7-1875G>A
c.-7-1875G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784200
chr22:43784281 A
A
 G
G
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-1956T>C
c.-7-1956T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784281
chr22:43784285 C
C
 T
T
 64 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 64 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-1960G>A
c.-7-1960G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784285
chr22:43784310 A
A
 C
C
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.-7-1985T>G
c.-7-1985T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784310
chr22:43784311 T
T
 A
A
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.-7-1986A>T
c.-7-1986A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784311
chr22:43784419 G
G
 T
T
 4 a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
others(1): Show 
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
a0003c0003t0001g0284
 4 HG01516.hp1
HG01517.hp1
HG03669.hp1
others(1): Show 
HG01516.hp1
HG01517.hp1
HG03669.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2094C>A
c.-7-2094C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784419
chr22:43784488 CA
CA
 C
C
 9 a0002c0002t0001g0140
a0002c0038t0001g0260
a0003c0003t0001g0072
others(6): Show 
a0002c0002t0001g0140
a0002c0038t0001g0260
a0003c0003t0001g0072
a0003c0003t0001g0214
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 9 HG01099.hp2
HG01943.hp2
HG02109.hp1
others(6): Show 
HG01099.hp2
HG01943.hp2
HG02109.hp1
HG02572.hp1
HG02622.hp2
HG03139.hp2
HG03654.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2164delT
c.-7-2164delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784488
chr22:43784488 CAA
CAA
 C
C
 36 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(33): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 36 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(33): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.-7-2165_-7-2164del
others(2): Show 
c.-7-2165_-7-2164delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784488
chr22:43784488 CAAA
CAAA
 C
C
 11 a0001c0023t0001g0254
a0008c0008t0001g0026
a0008c0008t0001g0033
others(8): Show 
a0001c0023t0001g0254
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
a0031c0022t0001g0237
 11 HG02083.hp2
HG02622.hp1
HG03491.hp2
others(8): Show 
HG02083.hp2
HG02622.hp1
HG03491.hp2
HG03492.hp1
NA18942.hp1
NA18943.hp1
NA18954.hp2
NA19010.hp2
NA19011.hp1
NA19079.hp1
NA20129.hp2
 intron_variant MODIFIER c.-7-2166_-7-2164del
others(3): Show 
c.-7-2166_-7-2164delTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784488
chr22:43784488 CAAAAA
CAAAAA
 C
C
 58 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(55): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0008c0008t0001g0202
a0023c0034t0001g0082
 58 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(55): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02698.hp2
HG02738.hp2
HG02818.hp1
HG03017.hp2
HG03195.hp2
HG03834.hp1
HG04115.hp1
NA18939.hp2
NA18941.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2168_-7-2164del
others(5): Show 
c.-7-2168_-7-2164delTTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784488
chr22:43784498 A
A
 T
T
 7 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
 7 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(4): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02602.hp1
HG02735.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-7-2173T>A
c.-7-2173T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784498
chr22:43784499 AAAAAT
AAAAAT
 A
A
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-7-2179_-7-2175del
others(5): Show 
c.-7-2179_-7-2175delATTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784499
chr22:43784500 A
A
 AT
AT
 9 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
others(6): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0002g0006
a0001c0001t0003g0001
a0001c0027t0001g0075
a0018c0044t0001g0221
 9 HG02818.hp2
HG02895.hp2
HG03017.hp1
others(6): Show 
HG02818.hp2
HG02895.hp2
HG03017.hp1
HG04228.hp2
NA18939.hp1
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19081.hp2
 intron_variant MODIFIER c.-7-2176_-7-2175ins
others(1): Show 
c.-7-2176_-7-2175insA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784500
chr22:43784500 A
A
 T
T
 30 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(27): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0001c0001t0001g0153
a0001c0001t0001g0258
a0001c0046t0001g0067
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0122
a0002c0002t0001g0123
a0005c0004t0001g0020
a0005c0004t0001g0108
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0234
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 30 HG00099.hp1
HG00280.hp2
HG00642.hp1
others(27): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG01169.hp1
HG01261.hp1
HG01496.hp2
HG01516.hp2
HG02040.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG02735.hp1
HG02886.hp1
HG02896.hp2
HG02976.hp1
HG03139.hp2
HG03492.hp2
HG03540.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.-7-2175T>A
c.-7-2175T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784500
chr22:43784502 A
A
 AAT
AAT
 6 a0001c0001t0001g0083
a0001c0001t0002g0008
a0001c0001t0002g0009
others(3): Show 
a0001c0001t0001g0083
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0017c0025t0002g0011
a0029c0031t0002g0012
 6 HG02055.hp1
HG02572.hp2
HG02717.hp2
others(3): Show 
HG02055.hp1
HG02572.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG06807.hp1
 intron_variant MODIFIER c.-7-2179_-7-2178dup
others(2): Show 
c.-7-2179_-7-2178dupAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784502
chr22:43784502 A
A
 AT
AT
 40 a0001c0001t0001g0078
a0001c0001t0001g0084
a0001c0001t0001g0085
others(37): Show 
a0001c0001t0001g0078
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0285
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(37): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG03209.hp1
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18942.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2178_-7-2177ins
others(1): Show 
c.-7-2178_-7-2177insA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784502
chr22:43784502 A
A
 T
T
 116 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(113): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0153
a0001c0001t0001g0236
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0027t0001g0075
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0003c0003t0001g0210
a0003c0003t0001g0226
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0163
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0018c0044t0001g0221
a0020c0048t0001g0177
a0026c0028t0003g0003
a0030c0032t0001g0126
 116 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(113): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.-7-2177T>A
c.-7-2177T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784502
chr22:43784509 ATATGTG
ATATGTG
 A
A
 21 a0001c0047t0001g0178
a0002c0021t0001g0179
a0004c0005t0001g0021
others(18): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 21 HG00099.hp2
HG00438.hp1
HG00558.hp1
others(18): Show 
HG00099.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG02135.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19010.hp1
NA19060.hp1
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-2190_-7-2185del
others(6): Show 
c.-7-2190_-7-2185delCACATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784509
chr22:43784511 A
A
 ATATGTGT
others(3): Show 
ATATGTGTGTG
 1 a0003c0003t0001g0210
a0003c0003t0001g0210
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-7-2187_-7-2186ins
others(10): Show 
c.-7-2187_-7-2186insCACACACATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784511 A
A
 ATATGTGT
others(5): Show 
ATATGTGTGTGTG
 1 a0003c0003t0001g0226
a0003c0003t0001g0226
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.-7-2187_-7-2186ins
others(12): Show 
c.-7-2187_-7-2186insCACACACACATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784511 A
A
 ATG
ATG
 4 a0002c0002t0001g0123
a0006c0006t0001g0267
a0006c0006t0001g0273
others(1): Show 
a0002c0002t0001g0123
a0006c0006t0001g0267
a0006c0006t0001g0273
a0024c0033t0001g0181
 4 HG02976.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02976.hp1
HG03041.hp2
HG03453.hp1
NA20805.hp2
 intron_variant MODIFIER c.-7-2188_-7-2187dup
others(2): Show 
c.-7-2188_-7-2187dupCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784511 A
A
 ATGTGTG
ATGTGTG
 25 a0001c0013t0001g0188
a0001c0013t0001g0233
a0003c0003t0001g0023
others(22): Show 
a0001c0013t0001g0188
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 25 HG00280.hp1
HG00438.hp2
HG01175.hp1
others(22): Show 
HG00280.hp1
HG00438.hp2
HG01175.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02074.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18950.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2192_-7-2187dup
others(6): Show 
c.-7-2192_-7-2187dupCACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784511 A
A
 ATGTGTGT
others(1): Show 
ATGTGTGTG
 7 a0001c0013t0001g0208
a0003c0003t0001g0207
a0003c0003t0001g0209
others(4): Show 
a0001c0013t0001g0208
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0227
a0003c0003t0001g0229
 7 HG00597.hp1
HG01081.hp1
NA18944.hp1
others(4): Show 
HG00597.hp1
HG01081.hp1
NA18944.hp1
NA18961.hp1
NA19005.hp2
NA19009.hp2
NA19077.hp2
 intron_variant MODIFIER c.-7-2194_-7-2187dup
others(8): Show 
c.-7-2194_-7-2187dupCACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784511 A
A
 ATGTGTGT
others(3): Show 
ATGTGTGTGTG
 2 a0001c0013t0001g0187
a0003c0003t0001g0183
a0001c0013t0001g0187
a0003c0003t0001g0183
 2 HG02451.hp1
NA19083.hp2
HG02451.hp1
NA19083.hp2
 intron_variant MODIFIER c.-7-2196_-7-2187dup
others(10): Show 
c.-7-2196_-7-2187dupCACACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784511 A
A
 G
G
 8 a0001c0001t0002g0006
a0002c0021t0001g0250
a0004c0005t0001g0088
others(5): Show 
a0001c0001t0002g0006
a0002c0021t0001g0250
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0009t0001g0166
 8 HG00140.hp1
HG00735.hp2
HG02074.hp1
others(5): Show 
HG00140.hp1
HG00735.hp2
HG02074.hp1
HG02683.hp2
HG02698.hp1
HG02895.hp2
NA19007.hp2
NA19064.hp2
 intron_variant MODIFIER c.-7-2186T>C
c.-7-2186T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784511 ATG
ATG
 A
A
 14 a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
others(11): Show 
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0006c0006t0001g0269
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0151
a0009c0010t0001g0286
a0027c0030t0009g0290
 14 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(11): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02280.hp1
HG02602.hp2
HG02630.hp2
HG03579.hp1
NA18522.hp2
NA18954.hp1
NA19007.hp1
NA19030.hp1
 intron_variant MODIFIER c.-7-2188_-7-2187del
others(2): Show 
c.-7-2188_-7-2187delCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784511
chr22:43784513 G
G
 A
A
 118 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(115): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0140
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0005t0001g0247
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0023c0034t0001g0082
a0026c0028t0003g0003
a0030c0032t0001g0126
 118 HG00099.hp1
HG00323.hp1
HG00423.hp2
others(115): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2188C>T
c.-7-2188C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784513
chr22:43784515 G
G
 A
A
 67 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(64): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0202
a0023c0034t0001g0082
 67 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(64): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01496.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02698.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03195.hp2
HG03453.hp2
HG03516.hp1
HG03834.hp1
HG04115.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2190C>T
c.-7-2190C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784515
chr22:43784537 G
G
 A
A
 2 a0001c0001t0001g0258
a0001c0046t0001g0067
a0001c0001t0001g0258
a0001c0046t0001g0067
 2 HG02055.hp2
HG02886.hp1
HG02055.hp2
HG02886.hp1
 intron_variant MODIFIER c.-7-2212C>T
c.-7-2212C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784537
chr22:43784539 G
G
 A
A
 9 a0001c0001t0001g0258
a0001c0046t0001g0067
a0002c0021t0001g0250
others(6): Show 
a0001c0001t0001g0258
a0001c0046t0001g0067
a0002c0021t0001g0250
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0009t0001g0166
 9 HG00140.hp1
HG00735.hp2
HG02055.hp2
others(6): Show 
HG00140.hp1
HG00735.hp2
HG02055.hp2
HG02074.hp1
HG02683.hp2
HG02698.hp1
HG02886.hp1
NA19007.hp2
NA19064.hp2
 intron_variant MODIFIER c.-7-2214C>T
c.-7-2214C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784539
chr22:43784539 G
G
 GTA
GTA
 7 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
 7 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(4): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02602.hp1
HG02735.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-7-2215_-7-2214ins
others(2): Show 
c.-7-2215_-7-2214insTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784539
chr22:43784540 T
T
 TATATGTA
others(9): Show 
TATATGTATATATACAC
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-2216_-7-2215ins
others(16): Show 
c.-7-2216_-7-2215insGTGTATATATACATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784540
chr22:43784541 G
G
 A
A
 15 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(12): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0002c0021t0001g0250
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0009t0001g0166
a0031c0022t0001g0237
 15 HG00140.hp1
HG00280.hp2
HG00642.hp1
others(12): Show 
HG00140.hp1
HG00280.hp2
HG00642.hp1
HG00735.hp2
HG01261.hp1
HG02074.hp1
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG03492.hp2
HG06807.hp2
NA19007.hp2
NA19064.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-2216C>T
c.-7-2216C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784541
chr22:43784541 G
G
 GTATATGT
others(11): Show 
GTATATGTATATATACACA
 14 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(11): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0016c0026t0001g0152
 14 HG01069.hp1
HG02559.hp2
HG02615.hp1
others(11): Show 
HG01069.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-7-2217_-7-2216ins
others(18): Show 
c.-7-2217_-7-2216insTGTGTATATATACATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784541
chr22:43784541 G
G
 GTGTGTGT
others(7): Show 
GTGTGTGTGTATATA
 1 a0003c0003t0001g0217
a0003c0003t0001g0217
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.-7-2217_-7-2216ins
others(14): Show 
c.-7-2217_-7-2216insTATATACACACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784541
chr22:43784541 GTGTATAT
others(37): Show 
GTGTATATGTATATATACACATATATATGTGTACATATACACATA
 G
G
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.-7-2260_-7-2217del
others(44): Show 
c.-7-2260_-7-2217delTATGTGTATATGTACACATATATATGTGTA
TATATACATATACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784541
chr22:43784543 G
G
 A
A
 22 a0001c0001t0001g0258
a0001c0046t0001g0067
a0002c0002t0001g0240
others(19): Show 
a0001c0001t0001g0258
a0001c0046t0001g0067
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0005c0004t0001g0020
a0005c0004t0001g0108
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0016c0026t0001g0152
a0031c0022t0001g0237
 22 HG01069.hp1
HG02040.hp2
HG02055.hp2
others(19): Show 
HG01069.hp1
HG02040.hp2
HG02055.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-2218C>T
c.-7-2218C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784543
chr22:43784543 G
G
 GTATATAT
others(7): Show 
GTATATATACACATA
 2 a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0088
a0004c0005t0001g0089
 2 HG02074.hp1
NA19007.hp2
HG02074.hp1
NA19007.hp2
 intron_variant MODIFIER c.-7-2219_-7-2218ins
others(14): Show 
c.-7-2219_-7-2218insTATGTGTATATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784543
chr22:43784543 G
G
 GTATATAT
others(29): Show 
GTATATATACACATATATATGTGTATATATACACATA
 1 a0004c0009t0001g0166
a0004c0009t0001g0166
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.-7-2219_-7-2218ins
others(36): Show 
c.-7-2219_-7-2218insTATGTGTATATATACACATATATATGTGTA
TATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784543
chr22:43784543 GTATATGT
others(33): Show 
GTATATGTATATATACACATATATATGTGTACATATACACA
 G
G
 1 a0005c0004t0001g0234
a0005c0004t0001g0234
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.-7-2258_-7-2219del
others(40): Show 
c.-7-2258_-7-2219delTGTGTATATGTACACATATATATGTGTATA
TATACATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784543
chr22:43784544 TATATGTA
others(31): Show 
TATATGTATATATACACATATATATGTGTACATATACAC
 T
T
 4 a0002c0002t0001g0122
a0007c0014t0002g0016
a0007c0014t0002g0017
others(1): Show 
a0002c0002t0001g0122
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
 4 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(1): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA18906.hp2
 intron_variant MODIFIER c.-7-2257_-7-2220del
others(38): Show 
c.-7-2257_-7-2220delGTGTATATGTACACATATATATGTGTATAT
ATACATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784544
chr22:43784545 A
A
 G
G
 8 a0001c0001t0002g0006
a0003c0003t0001g0072
a0003c0003t0001g0214
others(5): Show 
a0001c0001t0002g0006
a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0218
a0007c0014t0002g0015
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
 8 HG01099.hp2
HG01943.hp2
HG02155.hp2
others(5): Show 
HG01099.hp2
HG01943.hp2
HG02155.hp2
HG02895.hp2
HG03491.hp2
HG03492.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2220T>C
c.-7-2220T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784545
chr22:43784547 A
A
 ATACACAT
others(25): Show 
ATACACATATATATGTATATATACACATATATG
 2 a0001c0001t0001g0258
a0001c0046t0001g0067
a0001c0001t0001g0258
a0001c0046t0001g0067
 2 HG02055.hp2
HG02886.hp1
HG02055.hp2
HG02886.hp1
 intron_variant MODIFIER c.-7-2223_-7-2222ins
others(32): Show 
c.-7-2223_-7-2222insCATATATGTGTATATATACATATATATGTG
TA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784547
chr22:43784547 A
A
 ATATACAC
others(9): Show 
ATATACACATATATATG
 4 a0002c0021t0001g0250
a0004c0005t0001g0172
a0004c0005t0001g0173
others(1): Show 
a0002c0021t0001g0250
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
 4 HG00140.hp1
HG00735.hp2
HG02683.hp2
others(1): Show 
HG00140.hp1
HG00735.hp2
HG02683.hp2
HG02698.hp1
 intron_variant MODIFIER c.-7-2223_-7-2222ins
others(16): Show 
c.-7-2223_-7-2222insCATATATATGTGTATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784547
chr22:43784547 A
A
 ATATACAC
others(71): Show 
ATATACACATATATATGTATATATACACATATATGTGTATATATACACAC
ATATATATGTGTATATATACACATATATG
 7 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
 7 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(4): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02602.hp1
HG02735.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-7-2223_-7-2222ins
others(78): Show 
c.-7-2223_-7-2222insCATATATGTGTATATATACACATATATATG
TGTGTATATATACACATATATGTGTATATATACATATATATGTGTATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784547
chr22:43784547 A
A
 G
G
 6 a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0218
others(3): Show 
a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0218
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
 6 HG01099.hp2
HG01943.hp2
HG02155.hp2
others(3): Show 
HG01099.hp2
HG01943.hp2
HG02155.hp2
HG03491.hp2
HG03492.hp1
NA19043.hp2
 intron_variant MODIFIER c.-7-2222T>C
c.-7-2222T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784547
chr22:43784548 TGTATATA
others(27): Show 
TGTATATATACACATATATATGTGTACATATACAC
 T
T
 4 a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
others(1): Show 
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
 4 HG02040.hp2
NA18957.hp2
NA18961.hp2
others(1): Show 
HG02040.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
 intron_variant MODIFIER c.-7-2257_-7-2224del
others(34): Show 
c.-7-2257_-7-2224delGTGTATATGTACACATATATATGTGTATAT
ATAC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784548
chr22:43784548 TGTATATA
others(69): Show 
TGTATATATACACATATATATGTGTACATATACACATATATATGTATATA
TACACATATATATGTGTATATATACAC
 T
T
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.-7-2299_-7-2224del
others(76): Show 
c.-7-2299_-7-2224delGTGTATATATACACATATATATGTGTATAT
ATACATATATATGTGTATATGTACACATATATATGTGTATATATAC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784548
chr22:43784549 GTATATAT
others(27): Show 
GTATATATACACATATATATGTGTACATATACACA
 G
G
 1 a0007c0014t0005g0014
a0007c0014t0005g0014
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2258_-7-2225del
others(34): Show 
c.-7-2258_-7-2225delTGTGTATATGTACACATATATATGTGTATA
TATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784549
chr22:43784549 GTATATAT
others(29): Show 
GTATATATACACATATATATGTGTACATATACACATA
 G
G
 1 a0007c0014t0002g0015
a0007c0014t0002g0015
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-7-2260_-7-2225del
others(36): Show 
c.-7-2260_-7-2225delTATGTGTATATGTACACATATATATGTGTA
TATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784549
chr22:43784551 A
A
 G
G
 2 a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0072
a0003c0003t0001g0214
 2 HG01099.hp2
HG01943.hp2
HG01099.hp2
HG01943.hp2
 intron_variant MODIFIER c.-7-2226T>C
c.-7-2226T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784551
chr22:43784553 ATATACAC
others(9): Show 
ATATACACATATATATG
 A
A
 3 a0003c0003t0001g0218
a0014c0017t0001g0282
a0014c0017t0001g0283
a0003c0003t0001g0218
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG02155.hp2
HG03491.hp2
HG03492.hp1
HG02155.hp2
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-2244_-7-2229del
others(16): Show 
c.-7-2244_-7-2229delCATATATATGTGTATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784553
chr22:43784554 T
T
 C
C
 2 a0003c0003t0001g0229
a0003c0003t0001g0231
a0003c0003t0001g0229
a0003c0003t0001g0231
 2 NA18961.hp1
NA18974.hp2
NA18961.hp1
NA18974.hp2
 intron_variant MODIFIER c.-7-2229A>G
c.-7-2229A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784554
chr22:43784555 ATACACAT
others(7): Show 
ATACACATATATATG
 A
A
 2 a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0072
a0003c0003t0001g0214
 2 HG01099.hp2
HG01943.hp2
HG01099.hp2
HG01943.hp2
 intron_variant MODIFIER c.-7-2244_-7-2231del
others(14): Show 
c.-7-2244_-7-2231delCATATATATGTGTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784555
chr22:43784556 T
T
 C
C
 1 a0002c0002t0001g0117
a0002c0002t0001g0117
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-7-2231A>G
c.-7-2231A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TAC
TAC
 9 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0001c0001t0001g0258
a0001c0046t0001g0067
 9 HG00280.hp2
HG00642.hp1
HG01261.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG01261.hp1
HG02055.hp2
HG02602.hp1
HG02735.hp1
HG02886.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-7-2233_-7-2232dup
others(2): Show 
c.-7-2233_-7-2232dupGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(165): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATATGTGTATATATACACACATATATATGTGTATATATACATATATGTG
TGTATATATACACATATATGTGTATATATACACACATATATGTGTGTATA
TATACATATATGTGTATATATAC
 1 a0008c0008t0001g0202
a0008c0008t0001g0202
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(172): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTATATATACAC
ACATATATGTGTGTATATATACACATATATGTGTATATATACACACATAT
ATGTATATATACACATATATATGTGTGTATATATACACATATATATGTGT
GTATATATACACATATATGTGTATATATACATATATATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(79): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATATGTGTATATATACACATATATGTGTATATATAC
 34 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
others(31): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0035t0001g0235
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
 34 HG00558.hp2
HG00597.hp2
HG00621.hp1
others(31): Show 
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01934.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02698.hp2
HG02738.hp2
HG03017.hp2
HG03834.hp1
HG04115.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp1
NA18946.hp2
NA18950.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18984.hp1
NA19000.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19077.hp1
NA19079.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(86): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC
ACATATATATGTGTGTATATATACACATATATGTGTATATATACATATAT
ATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(167): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATATGTGTATATATACACATATATGTGTATATATACACACATATATATG
TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA
TATACACATATATGTGTATATATAC
 2 a0001c0001t0001g0024
a0001c0001t0001g0056
a0001c0001t0001g0024
a0001c0001t0001g0056
 2 HG01070.hp2
NA19087.hp1
HG01070.hp2
NA19087.hp1
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(174): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC
ACATATATATGTGTGTATATATACACATATATGTGTATATATACACATAT
ATATGTGTGTATATATACACATATATGTGTATATATACACATATATATGT
GTGTATATATACACATATATGTGTATATATACATATATATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(167): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATATGTGTATATATACACATATATGTGTATATATACACACATATATGTG
TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA
TATACACATATATGTGTATATATAC
 4 a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
others(1): Show 
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0201
 4 HG00639.hp1
HG02145.hp2
NA18963.hp1
others(1): Show 
HG00639.hp1
HG02145.hp2
NA18963.hp1
NA19070.hp2
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(174): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC
ACATATATATGTGTGTATATATACACATATATGTGTATATATACACACAT
ATATGTGTGTATATATACACATATATGTGTATATATACACATATATATGT
GTGTATATATACACATATATGTGTATATATACATATATATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(165): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATATGTGTATATATACACATATATGTGTATATATACACACATATATGTG
TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA
TATACATATATGTGTATATATAC
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(172): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTATATATACAC
ATATATATGTGTGTATATATACACATATATGTGTATATATACACACATAT
ATGTGTGTATATATACACATATATGTGTATATATACACATATATATGTGT
GTATATATACACATATATGTGTATATATACATATATATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(167): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATATGTGTATATATACACATATATGTGTATATATACACACATATATGTG
TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA
TATACATATATGTGTGTATATATAC
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(174): Show 
c.-7-2232_-7-2231insGTATATATACACACATATATGTATATATAC
ACATATATATGTGTGTATATATACACATATATGTGTATATATACACACAT
ATATGTGTGTATATATACACATATATGTGTATATATACACATATATATGT
GTGTATATATACACATATATGTGTATATATACATATATATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(231): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATATGTGTATATATACACATATATGTGTATATATACACACATATATGTG
TGTATATATACACATATATGTGTATATATACACATATATGTGTATATATA
CACACATATATGTGTGTATATATACACATATATGTGTATATATACACACA
TATATATGTGTATATATACACATATATGTGTATATATAC
 3 a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 3 NA18999.hp1
NA19009.hp1
NA19084.hp1
NA18999.hp1
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(238): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC
ACATATATATGTGTGTATATATACACATATATGTGTATATATACACACAT
ATATGTGTGTATATATACACATATATGTGTATATATACACATATATGTGT
ATATATACACACATATATGTGTGTATATATACACATATATGTGTATATAT
ACACATATATATGTGTGTATATATACACATATATGTGTATATATACATAT
ATATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(77): Show 
TACACATATATATGTATATATACACATATATGTGTATATATACACACATA
TATGTGTATATATACACATATATGTGTATATATAC
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(84): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC
ACATATATGTGTGTATATATACACATATATGTGTATATATACATATATAT
GTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(79): Show 
TACACATATATATGTATATATACACATATATGTGTGTATATACACACATA
TATATGTGTATATATACACATATATGTGTATATATAC
 2 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0048
a0001c0001t0001g0049
 2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(86): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC
ACATATATATGTGTGTATATACACACATATATGTGTATATATACATATAT
ATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784556 T
T
 TACACATA
others(35): Show 
TACACATATATGTGTATATATACACATATATGTGTATATATAC
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-7-2232_-7-2231ins
others(42): Show 
c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC
ACATATATGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784556
chr22:43784558 CACATATA
others(75): Show 
CACATATATATGTGTACATATACACATATATATGTATATATACACATATA
TATGTGTATATATACACATATATATGTATATGT
 C
C
 1 a0002c0002t0001g0117
a0002c0002t0001g0117
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-7-2315_-7-2234del
others(82): Show 
c.-7-2315_-7-2234delACATATACATATATATGTGTATATATACAC
ATATATATGTGTATATATACATATATATGTGTATATGTACACATATATAT
GT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784558
chr22:43784567 A
A
 ATGTATAT
others(81): Show 
ATGTATATATACACATATATGTGTATATATACACACATATATATGTGTAT
ATATACACATATATGTGTATATACACACACATATATATG
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.-7-2243_-7-2242ins
others(88): Show 
c.-7-2243_-7-2242insCATATATATGTGTGTGTATATACACATATA
TGTGTATATATACACATATATATGTGTGTATATATACACATATATGTGTA
TATATACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784567
chr22:43784567 A
A
 ATGTATAT
others(81): Show 
ATGTATATATACACATATATGTGTATATATACACACATATATATGTGTAT
ATATACACATATATGTGTATATATACACACATATATATG
 4 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0080
 4 HG00423.hp2
HG02155.hp1
NA18945.hp2
others(1): Show 
HG00423.hp2
HG02155.hp1
NA18945.hp2
NA18979.hp2
 intron_variant MODIFIER c.-7-2243_-7-2242ins
others(88): Show 
c.-7-2243_-7-2242insCATATATATGTGTGTATATATACACATATA
TGTGTATATATACACATATATATGTGTGTATATATACACATATATGTGTA
TATATACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784567
chr22:43784567 A
A
 ATGTATAT
others(127): Show 
ATGTATATATACACATATATGTGTATATATACACACATATATATGTGTAT
ATATACACATATATGTGTATATATACACACATATATATGTGTGTATATAT
ACACATATATGTGTATATATACACACATATATATG
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.-7-2243_-7-2242ins
others(134): Show 
c.-7-2243_-7-2242insCATATATATGTGTGTATATATACACATATA
TGTGTATATATACACACATATATATGTGTGTATATATACACATATATGTG
TATATATACACATATATATGTGTGTATATATACACATATATGTGTATATA
TACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784567
chr22:43784567 A
A
 G
G
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-2242T>C
c.-7-2242T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784567
chr22:43784567 ATG
ATG
 A
A
 24 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(21): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0057
a0001c0001t0001g0071
a0001c0013t0001g0031
a0001c0023t0001g0254
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0036
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0023c0034t0001g0082
 24 HG01258.hp2
HG01496.hp1
HG01884.hp2
others(21): Show 
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02004.hp2
HG02280.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03195.hp2
HG03453.hp2
HG03516.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp1
NA18954.hp2
NA18962.hp2
NA18965.hp1
NA18974.hp1
NA19030.hp1
NA19081.hp1
 intron_variant MODIFIER c.-7-2244_-7-2243del
others(2): Show 
c.-7-2244_-7-2243delCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784567
chr22:43784569 GTGTACAT
others(13): Show 
GTGTACATATACACATATATA
 G
G
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-7-2264_-7-2245del
others(20): Show 
c.-7-2264_-7-2245delTATATATGTGTATATGTACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784569
chr22:43784571 G
G
 A
A
 17 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(14): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0016c0026t0001g0152
a0024c0033t0001g0181
a0027c0030t0009g0290
a0031c0022t0001g0237
 17 HG01069.hp1
HG02559.hp2
HG02615.hp1
others(14): Show 
HG01069.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA20129.hp2
 intron_variant MODIFIER c.-7-2246C>T
c.-7-2246C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784571
chr22:43784571 GTACATAT
others(15): Show 
GTACATATACACATATATATGTA
 G
G
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.-7-2268_-7-2247del
others(22): Show 
c.-7-2268_-7-2247delTACATATATATGTGTATATGTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784571
chr22:43784572 TAC
TAC
 T
T
 52 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(49): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
 52 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(49): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02074.hp2
HG02293.hp2
HG02451.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG03017.hp1
HG03209.hp1
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2249_-7-2248del
others(2): Show 
c.-7-2249_-7-2248delGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784572
chr22:43784574 C
C
 T
T
 175 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(172): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0218
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0030c0032t0001g0126
a0031c0022t0001g0237
 175 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(172): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2249G>A
c.-7-2249G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784574
chr22:43784578 T
T
 C
C
 18 a0001c0001t0007g0238
a0002c0002t0001g0240
a0002c0002t0001g0241
others(15): Show 
a0001c0001t0007g0238
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0016c0026t0001g0152
a0024c0033t0001g0181
a0027c0030t0009g0290
a0031c0022t0001g0237
 18 HG00558.hp2
HG01069.hp1
HG02559.hp2
others(15): Show 
HG00558.hp2
HG01069.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA20129.hp2
 intron_variant MODIFIER c.-7-2253A>G
c.-7-2253A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784578
chr22:43784580 CACATATA
others(71): Show 
CACATATATATGTATATATACACATATATATGTGTATATATACACATATA
TATGTATATGTACACATATATATGTGTAT
 C
C
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-7-2333_-7-2256del
others(78): Show 
c.-7-2333_-7-2256delATACACATATATATGTGTACATATACATAT
ATATGTGTATATATACACATATATATGTGTATATATACATATATATGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784580
chr22:43784582 C
C
 T
T
 16 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(13): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0016c0026t0001g0152
a0024c0033t0001g0181
a0027c0030t0009g0290
 16 HG01069.hp1
HG02559.hp2
HG02615.hp1
others(13): Show 
HG01069.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
 intron_variant MODIFIER c.-7-2257G>A
c.-7-2257G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784582
chr22:43784583 A
A
 G
G
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.-7-2258T>C
c.-7-2258T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784583
chr22:43784585 A
A
 G
G
 10 a0002c0002t0001g0122
a0005c0004t0001g0020
a0005c0004t0001g0130
others(7): Show 
a0002c0002t0001g0122
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0234
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 10 HG02040.hp2
HG02109.hp1
HG02572.hp1
others(7): Show 
HG02040.hp2
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA18906.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.-7-2260T>C
c.-7-2260T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784585
chr22:43784589 A
A
 ATG
ATG
 19 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(16): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0002t0001g0133
a0002c0002t0001g0142
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0250
a0004c0005t0001g0088
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0009t0001g0166
a0030c0032t0001g0126
 19 HG00140.hp1
HG00735.hp2
HG01515.hp1
others(16): Show 
HG00140.hp1
HG00735.hp2
HG01515.hp1
HG01934.hp1
HG02074.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03579.hp2
NA19064.hp2
NA19240.hp1
 intron_variant MODIFIER c.-7-2266_-7-2265dup
others(2): Show 
c.-7-2266_-7-2265dupCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784589
chr22:43784589 A
A
 ATGTATAT
others(15): Show 
ATGTATATATACACATATATATG
 19 a0001c0047t0001g0178
a0002c0021t0001g0179
a0004c0005t0001g0022
others(16): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0162
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 19 HG00099.hp2
HG00438.hp1
HG00558.hp1
others(16): Show 
HG00099.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19010.hp1
NA19060.hp1
NA19080.hp1
NA19087.hp2
 intron_variant MODIFIER c.-7-2286_-7-2265dup
others(22): Show 
c.-7-2286_-7-2265dupCATATATATGTGTATATATACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784589
chr22:43784589 A
A
 G
G
 81 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(78): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0004c0005t0001g0089
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0022c0039t0001g0091
a0023c0034t0001g0082
 81 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(78): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2264T>C
c.-7-2264T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784589
chr22:43784591 GTATATAT
others(33): Show 
GTATATATACACATATATATGTGTATATATACACATATATA
 G
G
 37 a0002c0002t0001g0121
a0002c0002t0001g0139
a0002c0002t0001g0140
others(34): Show 
a0002c0002t0001g0121
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
 37 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(34): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01943.hp1
HG02083.hp1
HG02257.hp1
HG02602.hp2
HG03130.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
 intron_variant MODIFIER c.-7-2306_-7-2267del
others(40): Show 
c.-7-2306_-7-2267delTATATATGTGTATATATACACATATATATG
TGTATATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784591
chr22:43784593 A
A
 G
G
 7 a0001c0001t0002g0006
a0003c0003t0001g0072
a0003c0003t0001g0214
others(4): Show 
a0001c0001t0002g0006
a0003c0003t0001g0072
a0003c0003t0001g0214
a0003c0003t0001g0218
a0014c0017t0001g0282
a0014c0017t0001g0283
a0031c0022t0001g0237
 7 HG01099.hp2
HG01943.hp2
HG02155.hp2
others(4): Show 
HG01099.hp2
HG01943.hp2
HG02155.hp2
HG02895.hp2
HG03491.hp2
HG03492.hp1
NA20129.hp2
 intron_variant MODIFIER c.-7-2268T>C
c.-7-2268T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784593
chr22:43784596 T
T
 C
C
 5 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(2): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 5 HG01884.hp2
HG02280.hp1
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-7-2271A>G
c.-7-2271A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784596
chr22:43784598 T
T
 TAC
TAC
 75 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(72): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 75 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2275_-7-2274dup
others(2): Show 
c.-7-2275_-7-2274dupGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784598
chr22:43784600 C
C
 T
T
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-2275G>A
c.-7-2275G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784600
chr22:43784604 T
T
 C
C
 6 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(3): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0031c0022t0001g0237
 6 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(3): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-2279A>G
c.-7-2279A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784604
chr22:43784606 TATATGTG
others(29): Show 
TATATGTGTATATATACACATATATATGTATATGTAC
 T
T
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-7-2317_-7-2282del
others(36): Show 
c.-7-2317_-7-2282delGTACATATACATATATATGTGTATATATAC
ACATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784606
chr22:43784609 ATG
ATG
 A
A
 54 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(51): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0230
a0003c0003t0001g0232
a0003c0003t0001g0284
a0009c0010t0001g0148
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
 54 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(51): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02630.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18972.hp1
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2286_-7-2285del
others(2): Show 
c.-7-2286_-7-2285delCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784609
chr22:43784611 G
G
 A
A
 9 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(6): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 9 HG01884.hp2
HG02109.hp1
HG02280.hp1
others(6): Show 
HG01884.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp1
HG03139.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2286C>T
c.-7-2286C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784611
chr22:43784611 G
G
 GTGTATAT
others(31): Show 
GTGTATATACACATATATATGTGTATATACACATATATA
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.-7-2287_-7-2286ins
others(38): Show 
c.-7-2287_-7-2286insTATATATGTGTATATACACATATATATGTG
TATATACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784611
chr22:43784613 G
G
 A
A
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.-7-2288C>T
c.-7-2288C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784613
chr22:43784613 GTA
GTA
 G
G
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.-7-2290_-7-2289del
others(2): Show 
c.-7-2290_-7-2289delTA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784613
chr22:43784618 T
T
 C
C
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2293A>G
c.-7-2293A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784618
chr22:43784620 T
T
 C
C
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.-7-2295A>G
c.-7-2295A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784620
chr22:43784622 C
C
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2297G>A
c.-7-2297G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784622
chr22:43784622 CACATATA
others(29): Show 
CACATATATATGTATATGTACACATATATATGTGTAT
 C
C
 8 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
others(5): Show 
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0133
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0030c0032t0001g0126
 8 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(5): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02717.hp1
HG02886.hp2
HG03130.hp1
HG03579.hp2
 intron_variant MODIFIER c.-7-2333_-7-2298del
others(36): Show 
c.-7-2333_-7-2298delATACACATATATATGTGTACATATACATAT
ATATGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784622
chr22:43784624 C
C
 T
T
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.-7-2299G>A
c.-7-2299G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784624
chr22:43784626 T
T
 C
C
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2301A>G
c.-7-2301A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784626
chr22:43784627 A
A
 G
G
 1 a0005c0004t0001g0108
a0005c0004t0001g0108
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.-7-2302T>C
c.-7-2302T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784627
chr22:43784631 A
A
 ATG
ATG
 11 a0002c0002t0001g0118
a0002c0002t0001g0122
a0002c0002t0001g0123
others(8): Show 
a0002c0002t0001g0118
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0142
a0004c0005t0001g0165
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0234
 11 HG01515.hp1
HG02040.hp2
HG02809.hp1
others(8): Show 
HG01515.hp1
HG02040.hp2
HG02809.hp1
HG02896.hp2
HG02976.hp1
NA18906.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA19079.hp2
NA20805.hp1
 intron_variant MODIFIER c.-7-2308_-7-2307dup
others(2): Show 
c.-7-2308_-7-2307dupCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784631
chr22:43784631 A
A
 ATGTGTAT
others(17): Show 
ATGTGTATATATACACATATATATG
 1 a0004c0005t0001g0021
a0004c0005t0001g0021
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.-7-2307_-7-2306ins
others(24): Show 
c.-7-2307_-7-2306insCATATATATGTGTATATATACACA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784631
chr22:43784631 A
A
 G
G
 80 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(77): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
a0031c0022t0001g0237
 80 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(77): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.-7-2306T>C
c.-7-2306T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784631
chr22:43784635 A
A
 ATATATAC
others(57): Show 
ATATATACACATATATATGTGTATATATACACATATATATGTGTATATAT
ACACATATATATGTG
 1 a0004c0005t0001g0175
a0004c0005t0001g0175
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-7-2311_-7-2310ins
others(64): Show 
c.-7-2311_-7-2310insCACATATATATGTGTATATATACACATATA
TATGTGTATATATACACATATATATGTGTATATA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784635
chr22:43784635 A
A
 G
G
 68 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(65): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0004g0288
a0002c0021t0001g0179
a0002c0021t0001g0250
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0028c0041t0001g0189
 68 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(65): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00735.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp1
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp2
HG03041.hp1
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18950.hp2
NA18951.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2310T>C
c.-7-2310T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784635
chr22:43784637 A
A
 G
G
 1 a0004c0005t0001g0021
a0004c0005t0001g0021
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.-7-2312T>C
c.-7-2312T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784637
chr22:43784637 ATG
ATG
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2314_-7-2313del
others(2): Show 
c.-7-2314_-7-2313delCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784637
chr22:43784639 G
G
 A
A
 64 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(61): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0045
a0001c0001t0001g0057
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0013t0001g0031
a0002c0002t0001g0111
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0004c0005t0001g0021
a0004c0005t0001g0165
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0008c0008t0001g0036
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0023c0034t0001g0082
 64 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(61): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01943.hp1
HG02004.hp2
HG02040.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02602.hp2
HG02809.hp1
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18954.hp2
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18974.hp1
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19079.hp2
NA19081.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-7-2314C>T
c.-7-2314C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784639
chr22:43784640 T
T
 TAC
TAC
 8 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(5): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0057
a0001c0001t0001g0071
a0001c0013t0001g0031
a0023c0034t0001g0082
 8 HG01258.hp2
HG02004.hp2
HG03195.hp2
others(5): Show 
HG01258.hp2
HG02004.hp2
HG03195.hp2
NA18947.hp1
NA18962.hp2
NA18965.hp1
NA18974.hp1
NA19081.hp1
 intron_variant MODIFIER c.-7-2317_-7-2316dup
others(2): Show 
c.-7-2317_-7-2316dupGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784640
chr22:43784641 ACACATAT
others(7): Show 
ACACATATATATGTG
 A
A
 2 a0002c0002t0001g0111
a0002c0002t0004g0288
a0002c0002t0001g0111
a0002c0002t0004g0288
 2 HG03041.hp1
NA19240.hp1
HG03041.hp1
NA19240.hp1
 intron_variant MODIFIER c.-7-2330_-7-2317del
others(14): Show 
c.-7-2330_-7-2317delCACATATATATGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784641
chr22:43784642 C
C
 T
T
 183 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(180): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0014c0017t0001g0282
a0014c0017t0001g0283
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0031c0022t0001g0237
 183 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(180): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2317G>A
c.-7-2317G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784642
chr22:43784651 A
A
 ATG
ATG
 62 a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
others(59): Show 
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0035t0001g0235
a0001c0046t0001g0067
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
 62 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(59): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01261.hp1
HG01934.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18972.hp2
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19077.hp1
NA19079.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2328_-7-2327dup
others(2): Show 
c.-7-2328_-7-2327dupCA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784651
chr22:43784651 A
A
 G
G
 2 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0028
a0001c0001t0001g0029
 2 NA18947.hp1
NA18965.hp1
NA18947.hp1
NA18965.hp1
 intron_variant MODIFIER c.-7-2326T>C
c.-7-2326T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784651
chr22:43784657 A
A
 G
G
 2 a0001c0001t0001g0201
a0008c0008t0001g0202
a0001c0001t0001g0201
a0008c0008t0001g0202
 2 HG00735.hp1
NA19070.hp2
HG00735.hp1
NA19070.hp2
 intron_variant MODIFIER c.-7-2332T>C
c.-7-2332T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784657
chr22:43784658 T
T
 C
C
 2 a0002c0002t0001g0111
a0002c0002t0004g0288
a0002c0002t0001g0111
a0002c0002t0004g0288
 2 HG03041.hp1
NA19240.hp1
HG03041.hp1
NA19240.hp1
 intron_variant MODIFIER c.-7-2333A>G
c.-7-2333A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784658
chr22:43784659 A
A
 G
G
 1 a0004c0005t0001g0165
a0004c0005t0001g0165
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.-7-2334T>C
c.-7-2334T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784659
chr22:43784662 T
T
 C
C
 2 a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0145
a0002c0002t0001g0146
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.-7-2337A>G
c.-7-2337A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784662
chr22:43784664 C
C
 CACATATA
others(75): Show 
CACATATATGTGTATATATACACACATATATATGTGTATATATACACATA
TATGTGTATATGTATACATATATATGTGTGTAT
 3 a0001c0001t0001g0057
a0001c0001t0001g0071
a0008c0008t0001g0036
a0001c0001t0001g0057
a0001c0001t0001g0071
a0008c0008t0001g0036
 3 NA18954.hp2
NA18974.hp1
NA19081.hp1
NA18954.hp2
NA18974.hp1
NA19081.hp1
 intron_variant MODIFIER c.-7-2340_-7-2339ins
others(82): Show 
c.-7-2340_-7-2339insATACACACATATATATGTATACATATACAC
ATATATGTGTATATATACACATATATATGTGTGTATATATACACATATAT
GT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784664
chr22:43784664 C
C
 CACATATA
others(29): Show 
CACATATATGTGTATATGTATACATATATATGTGTGT
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-7-2340_-7-2339ins
others(36): Show 
c.-7-2340_-7-2339insACACACATATATATGTATACATATACACAT
ATATGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784664
chr22:43784664 C
C
 CATATATA
others(7): Show 
CATATATATGTGTAT
 1 a0004c0005t0001g0165
a0004c0005t0001g0165
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.-7-2340_-7-2339ins
others(14): Show 
c.-7-2340_-7-2339insATACACATATATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784664
chr22:43784668 TAC
TAC
 T
T
 11 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(8): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0030c0032t0001g0126
 11 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(8): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.-7-2345_-7-2344del
others(2): Show 
c.-7-2345_-7-2344delGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784668
chr22:43784670 C
C
 CAT
CAT
 9 a0002c0002t0001g0121
a0002c0002t0001g0263
a0005c0004t0001g0107
others(6): Show 
a0002c0002t0001g0121
a0002c0002t0001g0263
a0005c0004t0001g0107
a0005c0004t0001g0108
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0102
a0016c0026t0001g0152
a0027c0030t0009g0290
 9 HG00642.hp2
HG01069.hp1
HG01261.hp2
others(6): Show 
HG00642.hp2
HG01069.hp1
HG01261.hp2
HG01516.hp2
HG01884.hp1
HG02135.hp2
HG02723.hp2
HG03491.hp1
HG03579.hp1
 intron_variant MODIFIER c.-7-2347_-7-2346dup
others(2): Show 
c.-7-2347_-7-2346dupAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784670
chr22:43784670 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-7-2345G>A
c.-7-2345G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784670
chr22:43784670 CAT
CAT
 C
C
 54 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
others(51): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0203
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0007g0238
a0001c0013t0001g0031
a0007c0014t0002g0015
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0038
a0008c0029t0001g0034
 54 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(51): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01934.hp2
HG02004.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG03017.hp2
HG03492.hp2
HG06807.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18979.hp2
NA18984.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19077.hp1
NA19079.hp1
NA19083.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2347_-7-2346del
others(2): Show 
c.-7-2347_-7-2346delAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784670
chr22:43784670 CATAT
CATAT
 C
C
 9 a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0001g0059
others(6): Show 
a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0079
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0008c0008t0001g0033
a0008c0008t0001g0037
 9 HG00597.hp2
HG02083.hp2
HG02109.hp1
others(6): Show 
HG00597.hp2
HG02083.hp2
HG02109.hp1
HG02572.hp1
HG03139.hp2
HG03834.hp1
NA18942.hp1
NA18945.hp2
NA19000.hp2
 intron_variant MODIFIER c.-7-2349_-7-2346del
others(4): Show 
c.-7-2349_-7-2346delATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784670
chr22:43784672 T
T
 C
C
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-7-2347A>G
c.-7-2347A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784672
chr22:43784672 T
T
 TATACACA
others(45): Show 
TATACACATATATATGTATATGTACACATATATATGTGTATATATACATA
TAC
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.-7-2348_-7-2347ins
others(52): Show 
c.-7-2348_-7-2347insGTATATGTATATATACACATATATATGTGT
ACATATACATATATATGTGTAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784672
chr22:43784672 TATATACA
others(7): Show 
TATATACACACACAC
 T
T
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.-7-2361_-7-2348del
others(14): Show 
c.-7-2361_-7-2348delGTGTGTGTGTATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784672
chr22:43784674 T
T
 C
C
 16 a0001c0001t0001g0025
a0001c0001t0001g0044
a0001c0001t0001g0046
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0074
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0258
a0001c0035t0001g0235
a0001c0046t0001g0067
a0004c0012t0001g0134
a0007c0014t0002g0015
a0007c0014t0005g0014
a0008c0008t0001g0035
a0023c0034t0001g0082
 16 HG01433.hp1
HG02040.hp1
HG02055.hp2
others(13): Show 
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02698.hp2
HG02886.hp1
HG03195.hp2
HG04115.hp1
HG04199.hp1
NA18939.hp2
NA18941.hp2
NA18943.hp1
NA18951.hp2
NA18999.hp1
NA19030.hp2
NA19043.hp2
NA19084.hp1
 intron_variant MODIFIER c.-7-2349A>G
c.-7-2349A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784674
chr22:43784676 T
T
 C
C
 86 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(83): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0120
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0231
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0035
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0150
a0023c0034t0001g0082
a0030c0032t0001g0126
 86 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03492.hp2
HG03579.hp2
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18943.hp1
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-2351A>G
c.-7-2351A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784676 T
T
 TAC
TAC
 13 a0001c0013t0001g0188
a0001c0013t0001g0233
a0002c0021t0001g0179
others(10): Show 
a0001c0013t0001g0188
a0001c0013t0001g0233
a0002c0021t0001g0179
a0003c0003t0001g0183
a0003c0003t0001g0209
a0003c0003t0001g0213
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0232
a0004c0005t0001g0252
a0004c0005t0001g0253
a0028c0041t0001g0189
 13 HG00280.hp1
HG00438.hp2
HG01175.hp1
others(10): Show 
HG00280.hp1
HG00438.hp2
HG01175.hp1
HG02735.hp2
HG03209.hp2
HG03942.hp2
HG04228.hp1
NA18951.hp1
NA18967.hp2
NA19000.hp1
NA19005.hp2
NA19009.hp2
NA19083.hp2
 intron_variant MODIFIER c.-7-2353_-7-2352dup
others(2): Show 
c.-7-2353_-7-2352dupGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784676 T
T
 TACAC
TACAC
 5 a0001c0013t0001g0208
a0002c0002t0001g0118
a0003c0003t0001g0072
others(2): Show 
a0001c0013t0001g0208
a0002c0002t0001g0118
a0003c0003t0001g0072
a0003c0003t0001g0214
a0004c0005t0001g0180
 5 HG01081.hp1
HG01099.hp2
HG01943.hp2
others(2): Show 
HG01081.hp1
HG01099.hp2
HG01943.hp2
HG02896.hp2
NA19087.hp2
 intron_variant MODIFIER c.-7-2355_-7-2352dup
others(4): Show 
c.-7-2355_-7-2352dupGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784676 T
T
 TATAC
TATAC
 6 a0002c0002t0001g0117
a0002c0002t0001g0123
a0009c0010t0001g0148
others(3): Show 
a0002c0002t0001g0117
a0002c0002t0001g0123
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0151
a0024c0033t0001g0181
 6 HG02280.hp1
HG02630.hp2
HG02976.hp1
others(3): Show 
HG02280.hp1
HG02630.hp2
HG02976.hp1
HG03041.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.-7-2352_-7-2351ins
others(4): Show 
c.-7-2352_-7-2351insGTAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784676 TAC
TAC
 T
T
 32 a0002c0002t0001g0240
a0002c0002t0001g0246
a0003c0003t0001g0218
others(29): Show 
a0002c0002t0001g0240
a0002c0002t0001g0246
a0003c0003t0001g0218
a0004c0005t0001g0021
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0175
a0004c0005t0001g0248
a0005c0004t0001g0103
a0005c0004t0001g0127
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0009c0010t0001g0286
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0013c0018t0001g0090
a0014c0017t0001g0282
a0014c0017t0001g0283
a0022c0039t0001g0091
 32 HG00099.hp2
HG00140.hp2
HG00639.hp2
others(29): Show 
HG00099.hp2
HG00140.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02615.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp2
NA18522.hp2
NA18954.hp1
NA19007.hp2
NA19060.hp1
NA19070.hp1
NA20129.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-2353_-7-2352del
others(2): Show 
c.-7-2353_-7-2352delGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784676 TACAC
TACAC
 T
T
 17 a0002c0002t0001g0245
a0003c0003t0001g0206
a0003c0003t0001g0207
others(14): Show 
a0002c0002t0001g0245
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0284
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0013c0018t0001g0092
a0021c0036t0001g0138
a0032c0042t0001g0275
 17 HG00423.hp1
HG01255.hp1
HG01257.hp1
others(14): Show 
HG00423.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02630.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp1
NA18906.hp1
NA18944.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-2355_-7-2352del
others(4): Show 
c.-7-2355_-7-2352delGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784676 TACACACA
others(1): Show 
TACACACAC
 T
T
 8 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
others(5): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 8 HG01099.hp1
HG01257.hp2
HG01258.hp1
others(5): Show 
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.-7-2359_-7-2352del
others(8): Show 
c.-7-2359_-7-2352delGTGTGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784676 TACACACA
others(15): Show 
TACACACACACACACACACACAC
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-7-2373_-7-2352del
others(22): Show 
c.-7-2373_-7-2352delGTGTGTGTGTGTGTGTGTGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784676
chr22:43784678 C
C
 T
T
 46 a0001c0001t0001g0057
a0001c0001t0001g0071
a0001c0001t0001g0083
others(43): Show 
a0001c0001t0001g0057
a0001c0001t0001g0071
a0001c0001t0001g0083
a0001c0001t0001g0201
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0129
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0264
a0002c0038t0001g0260
a0004c0005t0001g0165
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0093
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0130
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0006c0006t0001g0265
a0008c0008t0001g0202
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0011c0015t0001g0099
a0011c0015t0001g0100
a0015c0024t0001g0128
a0017c0025t0002g0011
a0029c0031t0002g0012
 46 HG00099.hp1
HG00323.hp1
HG00323.hp2
others(43): Show 
HG00099.hp1
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp1
HG02055.hp1
HG02083.hp1
HG02257.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG06807.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18974.hp1
NA18983.hp1
NA18984.hp2
NA19070.hp2
NA19079.hp2
NA19081.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.-7-2353G>A
c.-7-2353G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784678
chr22:43784680 C
C
 T
T
 10 a0002c0002t0001g0240
a0002c0002t0001g0246
a0004c0005t0001g0165
others(7): Show 
a0002c0002t0001g0240
a0002c0002t0001g0246
a0004c0005t0001g0165
a0005c0004t0001g0103
a0005c0004t0001g0127
a0006c0006t0001g0257
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0009c0010t0001g0286
 10 HG02257.hp2
HG02615.hp1
HG02922.hp1
others(7): Show 
HG02257.hp2
HG02615.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03540.hp1
HG03669.hp2
NA18522.hp2
NA19070.hp1
NA19079.hp2
 intron_variant MODIFIER c.-7-2355G>A
c.-7-2355G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784680
chr22:43784682 C
C
 T
T
 4 a0002c0002t0001g0245
a0013c0018t0001g0092
a0021c0036t0001g0138
others(1): Show 
a0002c0002t0001g0245
a0013c0018t0001g0092
a0021c0036t0001g0138
a0032c0042t0001g0275
 4 HG02630.hp1
HG03130.hp2
HG03486.hp2
others(1): Show 
HG02630.hp1
HG03130.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.-7-2357G>A
c.-7-2357G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784682
chr22:43784684 C
C
 T
T
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.-7-2359G>A
c.-7-2359G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784684
chr22:43784686 C
C
 T
T
 8 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
others(5): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
 8 HG01099.hp1
HG01257.hp2
HG01258.hp1
others(5): Show 
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.-7-2361G>A
c.-7-2361G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784686
chr22:43784700 C
C
 T
T
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-7-2375G>A
c.-7-2375G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784700
chr22:43784702 C
C
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-2377G>A
c.-7-2377G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784702
chr22:43784718 C
C
 CATAT
CATAT
 7 a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
others(4): Show 
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 7 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(4): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
 intron_variant MODIFIER c.-7-2397_-7-2394dup
others(4): Show 
c.-7-2397_-7-2394dupATAT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784718
chr22:43784718 C
C
 T
T
 17 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(14): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0002c0002t0001g0141
a0014c0017t0001g0282
a0014c0017t0001g0283
a0026c0028t0003g0003
 17 HG01074.hp1
HG01175.hp2
HG02293.hp2
others(14): Show 
HG01074.hp1
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG03491.hp2
HG03492.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-7-2393G>A
c.-7-2393G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784718
chr22:43784720 T
T
 C
C
 5 a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0153
others(2): Show 
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0023t0001g0254
a0031c0022t0001g0237
 5 HG01433.hp1
HG02155.hp1
HG02622.hp1
others(2): Show 
HG01433.hp1
HG02155.hp1
HG02622.hp1
NA18522.hp1
NA20129.hp2
 intron_variant MODIFIER c.-7-2395A>G
c.-7-2395A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784720
chr22:43784733 C
C
 T
T
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-2408G>A
c.-7-2408G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784733
chr22:43784893 A
A
 C
C
 1 a0024c0033t0001g0181
a0024c0033t0001g0181
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-7-2568T>G
c.-7-2568T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43784893
chr22:43785032 G
G
 A
A
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-2707C>T
c.-7-2707C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785032
chr22:43785378 C
C
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-3053G>A
c.-7-3053G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785378
chr22:43785418 CA
CA
 C
C
 64 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 64 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-3094delT
c.-7-3094delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785418
chr22:43785432 A
A
 G
G
 110 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(107): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0020c0048t0001g0177
a0023c0034t0001g0082
a0031c0022t0001g0237
 110 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(107): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA20129.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-3107T>C
c.-7-3107T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785432
chr22:43785454 T
T
 A
A
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.-7-3129A>T
c.-7-3129A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785454
chr22:43785561 GA
GA
 G
G
 81 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(78): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0046t0001g0067
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
a0031c0022t0001g0237
 81 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(78): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.-7-3237delT
c.-7-3237delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785561
chr22:43785582 T
T
 G
G
 1 a0002c0037t0001g0119
a0002c0037t0001g0119
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-7-3257A>C
c.-7-3257A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785582
chr22:43785602 AG
AG
 A
A
 64 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 64 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-3278delC
c.-7-3278delC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43785602
chr22:43786085 G
G
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-3760C>T
c.-7-3760C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786085
chr22:43786223 C
C
 T
T
 2 a0001c0001t0001g0076
a0001c0001t0001g0255
a0001c0001t0001g0076
a0001c0001t0001g0255
 2 NA18943.hp2
NA18967.hp1
NA18943.hp2
NA18967.hp1
 intron_variant MODIFIER c.-7-3898G>A
c.-7-3898G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786223
chr22:43786255 C
C
 T
T
 1 a0004c0005t0001g0249
a0004c0005t0001g0249
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.-7-3930G>A
c.-7-3930G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786255
chr22:43786307 G
G
 T
T
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.-7-3982C>A
c.-7-3982C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786307
chr22:43786442 C
C
 G
G
 7 a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
others(4): Show 
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
 7 HG02083.hp2
NA18942.hp1
NA18943.hp1
others(4): Show 
HG02083.hp2
NA18942.hp1
NA18943.hp1
NA18954.hp2
NA19010.hp2
NA19011.hp1
NA19079.hp1
 intron_variant MODIFIER c.-7-4117G>C
c.-7-4117G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786442
chr22:43786573 T
T
 A
A
 1 a0013c0018t0001g0092
a0013c0018t0001g0092
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-7-4248A>T
c.-7-4248A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786573
chr22:43786602 G
G
 A
A
 64 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 64 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-4277C>T
c.-7-4277C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786602
chr22:43786693 G
G
 A
A
 12 a0001c0001t0001g0087
a0001c0001t0001g0153
a0007c0007t0001g0154
others(9): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0027c0030t0009g0290
 12 HG01433.hp1
HG01496.hp1
HG02723.hp1
others(9): Show 
HG01433.hp1
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.-7-4368C>T
c.-7-4368C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786693
chr22:43786700 C
C
 T
T
 64 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 64 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-4375G>A
c.-7-4375G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786700
chr22:43786793 G
G
 T
T
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.-7-4468C>A
c.-7-4468C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786793
chr22:43786902 C
C
 T
T
 5 a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
others(2): Show 
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 5 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(2): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp2
 intron_variant MODIFIER c.-7-4577G>A
c.-7-4577G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786902
chr22:43786947 G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-7-4622C>T
c.-7-4622C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43786947
chr22:43787032 T
T
 C
C
 270 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(267): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 270 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(267): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-4707A>G
c.-7-4707A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787032
chr22:43787222 G
G
 A
A
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-4897C>T
c.-7-4897C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787222
chr22:43787292 C
C
 A
A
 37 a0001c0023t0001g0254
a0001c0047t0001g0178
a0002c0021t0001g0179
others(34): Show 
a0001c0023t0001g0254
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0020c0048t0001g0177
a0023c0034t0001g0082
a0031c0022t0001g0237
 37 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(34): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG03139.hp2
HG03195.hp2
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-4967G>T
c.-7-4967G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787292
chr22:43787293 A
A
 T
T
 37 a0001c0023t0001g0254
a0001c0047t0001g0178
a0002c0021t0001g0179
others(34): Show 
a0001c0023t0001g0254
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0020c0048t0001g0177
a0023c0034t0001g0082
a0031c0022t0001g0237
 37 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(34): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02572.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG03139.hp2
HG03195.hp2
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-4968T>A
c.-7-4968T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787293
chr22:43787352 G
G
 GCA
GCA
 8 a0006c0006t0001g0267
a0006c0006t0001g0273
a0006c0006t0001g0276
others(5): Show 
a0006c0006t0001g0267
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 8 HG01515.hp2
HG01517.hp2
HG01884.hp2
others(5): Show 
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG02280.hp1
HG02300.hp1
HG03453.hp1
NA19030.hp1
NA20805.hp2
 intron_variant MODIFIER c.-7-5029_-7-5028dup
others(2): Show 
c.-7-5029_-7-5028dupTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787352
chr22:43787352 GCA
GCA
 G
G
 121 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0046
others(118): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0066
a0001c0001t0001g0083
a0001c0001t0001g0153
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0258
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0023t0001g0254
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0005t0001g0088
a0004c0005t0001g0162
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0012t0001g0019
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0202
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0021c0036t0001g0138
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 121 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(118): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18963.hp1
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA18999.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.-7-5029_-7-5028del
others(2): Show 
c.-7-5029_-7-5028delTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787352
chr22:43787352 GCACA
GCACA
 G
G
 48 a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
others(45): Show 
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0001c0047t0001g0178
a0002c0002t0001g0241
a0002c0002t0001g0259
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0089
a0004c0005t0001g0165
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0094
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
 48 HG00438.hp1
HG00558.hp1
HG00621.hp2
others(45): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG01175.hp2
HG02135.hp1
HG02293.hp2
HG02698.hp1
HG02738.hp1
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03579.hp1
HG03834.hp2
HG04199.hp2
HG04228.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18945.hp1
NA18951.hp1
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18983.hp2
NA18984.hp1
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19240.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-5031_-7-5028del
others(4): Show 
c.-7-5031_-7-5028delTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787352
chr22:43787352 GCACACA
GCACACA
 G
G
 36 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
others(33): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0047
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0008c0008t0001g0033
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
a0014c0017t0001g0282
a0014c0017t0001g0283
 36 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(33): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG01074.hp2
HG01258.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02155.hp1
HG03491.hp2
HG03492.hp1
HG03834.hp1
NA18941.hp2
NA18942.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18960.hp1
NA18962.hp2
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA19000.hp2
NA19004.hp2
NA19011.hp1
NA19057.hp1
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
 intron_variant MODIFIER c.-7-5033_-7-5028del
others(6): Show 
c.-7-5033_-7-5028delTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787352
chr22:43787352 GCACACAC
others(1): Show 
GCACACACA
 G
G
 41 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(38): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0284
a0003c0003t0008g0287
a0008c0008t0001g0026
a0008c0008t0001g0035
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 41 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG04228.hp1
NA18943.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-5035_-7-5028del
others(8): Show 
c.-7-5035_-7-5028delTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787352
chr22:43787352 GCACACAC
others(3): Show 
GCACACACACA
 G
G
 1 a0003c0003t0001g0232
a0003c0003t0001g0232
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.-7-5037_-7-5028del
others(10): Show 
c.-7-5037_-7-5028delTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787352
chr22:43787468 A
A
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-5143T>A
c.-7-5143T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787468
chr22:43787534 C
C
 T
T
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-7-5209G>A
c.-7-5209G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787534
chr22:43787565 T
T
 C
C
 2 a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0087
a0001c0001t0001g0153
 2 HG01433.hp1
NA18522.hp1
HG01433.hp1
NA18522.hp1
 intron_variant MODIFIER c.-7-5240A>G
c.-7-5240A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787565
chr22:43787776 TGATCATG
others(14): Show 
TGATCATGAAAAATAAAAATAA
 T
T
 2 a0006c0006t0001g0279
a0006c0006t0001g0280
a0006c0006t0001g0279
a0006c0006t0001g0280
 2 HG02004.hp1
HG02293.hp1
HG02004.hp1
HG02293.hp1
 intron_variant MODIFIER c.-7-5472_-7-5452del
others(21): Show 
c.-7-5472_-7-5452delTTATTTTTATTTTTCATGATC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787776
chr22:43787841 G
G
 A
A
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-5516C>T
c.-7-5516C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787841
chr22:43787906 T
T
 A
A
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.-7-5581A>T
c.-7-5581A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787906
chr22:43787910 G
G
 A
A
 8 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0029c0031t0002g0012
 8 HG02055.hp1
HG02615.hp2
HG02717.hp2
others(5): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.-7-5585C>T
c.-7-5585C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787910
chr22:43787967 A
A
 G
G
 2 a0008c0008t0001g0033
a0008c0029t0001g0034
a0008c0008t0001g0033
a0008c0029t0001g0034
 2 NA18942.hp1
NA19011.hp1
NA18942.hp1
NA19011.hp1
 intron_variant MODIFIER c.-7-5642T>C
c.-7-5642T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43787967
chr22:43788022 C
C
 T
T
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-7-5697G>A
c.-7-5697G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43788022
chr22:43788033 A
A
 C
C
 66 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(63): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 66 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(63): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-5708T>G
c.-7-5708T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43788033
chr22:43788180 T
T
 A
A
 1 a0005c0004t0001g0110
a0005c0004t0001g0110
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.-7-5855A>T
c.-7-5855A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43788180
chr22:43788245 C
C
 G
G
 1 a0002c0002t0001g0133
a0002c0002t0001g0133
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-7-5920G>C
c.-7-5920G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43788245
chr22:43788648 G
G
 T
T
 6 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(3): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 6 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(3): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-7-6323C>A
c.-7-6323C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43788648
chr22:43788649 A
A
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-7-6324T>A
c.-7-6324T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43788649
chr22:43788948 G
G
 A
A
 1 a0006c0006t0001g0268
a0006c0006t0001g0268
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.-7-6623C>T
c.-7-6623C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43788948
chr22:43789269 G
G
 A
A
 2 a0007c0014t0002g0015
a0007c0014t0005g0014
a0007c0014t0002g0015
a0007c0014t0005g0014
 2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-6944C>T
c.-7-6944C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789269
chr22:43789564 C
C
 T
T
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-7239G>A
c.-7-7239G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789564
chr22:43789846 T
T
 C
C
 1 a0003c0003t0001g0209
a0003c0003t0001g0209
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.-7-7521A>G
c.-7-7521A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789846
chr22:43789847 T
T
 A
A
 1 a0003c0003t0001g0209
a0003c0003t0001g0209
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.-7-7522A>T
c.-7-7522A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCA
TCA
 70 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(67): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0201
a0001c0023t0001g0254
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0005t0001g0175
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0006c0006t0001g0267
a0006c0006t0001g0268
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0286
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0030c0032t0001g0126
a0031c0022t0001g0237
 70 HG00280.hp2
HG00323.hp1
HG01069.hp2
others(67): Show 
HG00280.hp2
HG00323.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18965.hp1
NA18965.hp2
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19070.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.-7-7524_-7-7523dup
others(2): Show 
c.-7-7524_-7-7523dupTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACA
TCACA
 17 a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
others(14): Show 
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0066
a0002c0002t0001g0120
a0004c0012t0001g0097
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0020t0001g0161
a0007c0014t0002g0015
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0016c0026t0001g0152
 17 HG00099.hp1
HG00642.hp1
HG00642.hp2
others(14): Show 
HG00099.hp1
HG00642.hp1
HG00642.hp2
HG01069.hp1
HG01169.hp1
HG01496.hp2
HG01516.hp2
HG02602.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG04199.hp2
NA18944.hp2
NA18947.hp2
NA18983.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-7526_-7-7523dup
others(4): Show 
c.-7-7526_-7-7523dupTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACACA
TCACACA
 13 a0003c0003t0001g0182
a0003c0003t0001g0210
a0003c0003t0008g0287
others(10): Show 
a0003c0003t0001g0182
a0003c0003t0001g0210
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0009c0010t0001g0151
 13 HG00423.hp1
HG01496.hp1
HG02074.hp2
others(10): Show 
HG00423.hp1
HG01496.hp1
HG02074.hp2
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
NA18979.hp1
NA19030.hp1
 intron_variant MODIFIER c.-7-7528_-7-7523dup
others(6): Show 
c.-7-7528_-7-7523dupTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACACAC
others(1): Show 
TCACACACA
 9 a0001c0013t0001g0233
a0003c0003t0001g0072
a0003c0003t0001g0211
others(6): Show 
a0001c0013t0001g0233
a0003c0003t0001g0072
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0284
a0007c0014t0002g0016
a0023c0034t0001g0082
 9 HG01099.hp2
HG01516.hp1
HG01517.hp1
others(6): Show 
HG01099.hp2
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02109.hp1
HG03195.hp2
HG03209.hp2
HG04228.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-7530_-7-7523dup
others(8): Show 
c.-7-7530_-7-7523dupTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACACAC
others(3): Show 
TCACACACACA
 26 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(23): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0003c0003t0001g0023
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0007c0014t0002g0018
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
 26 HG00280.hp1
HG00438.hp2
HG00597.hp1
others(23): Show 
HG00280.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01255.hp1
HG01257.hp1
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03130.hp2
HG03139.hp2
HG03654.hp2
HG03669.hp1
NA18944.hp1
NA18950.hp2
NA18972.hp1
NA19004.hp1
NA19009.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
 intron_variant MODIFIER c.-7-7532_-7-7523dup
others(10): Show 
c.-7-7532_-7-7523dupTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACACAC
others(5): Show 
TCACACACACACA
 16 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(13): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0007c0014t0002g0017
a0026c0028t0003g0003
a0028c0041t0001g0189
 16 HG01175.hp1
HG01175.hp2
HG02293.hp2
others(13): Show 
HG01175.hp1
HG01175.hp2
HG02293.hp2
HG02572.hp1
HG02738.hp1
HG02818.hp2
HG03209.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18961.hp1
NA18974.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19240.hp2
 intron_variant MODIFIER c.-7-7534_-7-7523dup
others(12): Show 
c.-7-7534_-7-7523dupTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACACAC
others(7): Show 
TCACACACACACACA
 3 a0001c0001t0001g0256
a0003c0003t0001g0232
a0024c0033t0001g0181
a0001c0001t0001g0256
a0003c0003t0001g0232
a0024c0033t0001g0181
 3 HG03017.hp1
HG03041.hp2
HG03942.hp2
HG03017.hp1
HG03041.hp2
HG03942.hp2
 intron_variant MODIFIER c.-7-7536_-7-7523dup
others(14): Show 
c.-7-7536_-7-7523dupTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACACAC
others(9): Show 
TCACACACACACACACA
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.-7-7538_-7-7523dup
others(16): Show 
c.-7-7538_-7-7523dupTGTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACACAC
others(15): Show 
TCACACACACACACACACACACA
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-7544_-7-7523dup
others(22): Show 
c.-7-7544_-7-7523dupTGTGTGTGTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACTCAC
others(3): Show 
TCACTCACACA
 7 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(4): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0010
a0017c0025t0002g0011
a0029c0031t0002g0012
 7 HG02055.hp1
HG02572.hp2
HG02717.hp2
others(4): Show 
HG02055.hp1
HG02572.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.-7-7523_-7-7522ins
others(10): Show 
c.-7-7523_-7-7522insTGTGTGAGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACTCAC
others(5): Show 
TCACTCACACACA
 1 a0001c0001t0002g0013
a0001c0001t0002g0013
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.-7-7523_-7-7522ins
others(12): Show 
c.-7-7523_-7-7522insTGTGTGTGAGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 T
T
 TCACTCAC
others(7): Show 
TCACTCACACACACA
 1 a0001c0001t0002g0009
a0001c0001t0002g0009
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-7-7523_-7-7522ins
others(14): Show 
c.-7-7523_-7-7522insTGTGTGTGTGAGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 TCACA
TCACA
 T
T
 4 a0005c0004t0001g0132
a0013c0018t0001g0090
a0013c0018t0001g0092
others(1): Show 
a0005c0004t0001g0132
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 4 HG01243.hp1
HG02040.hp2
HG02630.hp1
others(1): Show 
HG01243.hp1
HG02040.hp2
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.-7-7526_-7-7523del
others(4): Show 
c.-7-7526_-7-7523delTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789847 TCACACA
TCACACA
 T
T
 4 a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0071
others(1): Show 
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0071
a0001c0013t0001g0031
 4 HG01258.hp2
HG02004.hp2
NA18962.hp2
others(1): Show 
HG01258.hp2
HG02004.hp2
NA18962.hp2
NA18974.hp1
 intron_variant MODIFIER c.-7-7528_-7-7523del
others(6): Show 
c.-7-7528_-7-7523delTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789847
chr22:43789883 A
A
 ACACACAC
others(6): Show 
ACACACACACACAC
 1 a0001c0027t0001g0075
a0001c0027t0001g0075
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-7-7559_-7-7558ins
others(13): Show 
c.-7-7559_-7-7558insGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43789883
chr22:43790015 T
T
 C
C
 4 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
others(1): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0002g0004
a0007c0007t0002g0005
 4 HG02895.hp1
HG02897.hp2
HG03516.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-7-7690A>G
c.-7-7690A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790015
chr22:43790097 T
T
 A
A
 8 a0001c0023t0001g0254
a0007c0014t0002g0015
a0007c0014t0002g0016
others(5): Show 
a0001c0023t0001g0254
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0023c0034t0001g0082
a0031c0022t0001g0237
 8 HG02109.hp1
HG02572.hp1
HG02622.hp1
others(5): Show 
HG02109.hp1
HG02572.hp1
HG02622.hp1
HG03139.hp2
HG03195.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-7772A>T
c.-7-7772A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790097
chr22:43790359 A
A
 G
G
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-7-8034T>C
c.-7-8034T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790359
chr22:43790427 T
T
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-7-8102A>C
c.-7-8102A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790427
chr22:43790495 C
C
 T
T
 5 a0003c0003t0001g0186
a0005c0004t0001g0093
a0005c0004t0001g0135
others(2): Show 
a0003c0003t0001g0186
a0005c0004t0001g0093
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
 5 HG00323.hp1
HG01081.hp2
HG01943.hp1
others(2): Show 
HG00323.hp1
HG01081.hp2
HG01943.hp1
HG02257.hp1
NA19080.hp2
 intron_variant MODIFIER c.-7-8170G>A
c.-7-8170G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790495
chr22:43790569 A
A
 G
G
 60 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(57): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 60 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(57): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-7-8244T>C
c.-7-8244T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790569
chr22:43790620 G
G
 A
A
 1 a0012c0016t0001g0274
a0012c0016t0001g0274
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-7-8295C>T
c.-7-8295C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790620
chr22:43790734 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-8409G>A
c.-7-8409G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43790734
chr22:43791187 G
G
 A
A
 238 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(235): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 238 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(235): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-8862C>T
c.-7-8862C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791187
chr22:43791298 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-7-8973C>T
c.-7-8973C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791298
chr22:43791371 C
C
 CA
CA
 69 a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
others(66): Show 
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 69 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(66): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03453.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-7-9047dupT
c.-7-9047dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791371
chr22:43791388 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-7-9063A>G
c.-7-9063A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791388
chr22:43791392 G
G
 A
A
 5 a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
others(2): Show 
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
 5 HG00099.hp1
HG00642.hp2
HG01169.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01169.hp1
HG01496.hp2
HG01516.hp2
 intron_variant MODIFIER c.-7-9067C>T
c.-7-9067C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791392
chr22:43791631 G
G
 A
A
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-7-9306C>T
c.-7-9306C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791631
chr22:43791667 C
C
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-7-9342G>T
c.-7-9342G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791667
chr22:43791807 A
A
 C
C
 10 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(7): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0021c0036t0001g0138
 10 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(7): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03130.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.-7-9482T>G
c.-7-9482T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791807
chr22:43791899 G
G
 A
A
 3 a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
 3 HG00280.hp1
HG01175.hp1
HG02451.hp1
HG00280.hp1
HG01175.hp1
HG02451.hp1
 intron_variant MODIFIER c.-7-9574C>T
c.-7-9574C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791899
chr22:43791909 T
T
 A
A
 1 a0007c0014t0002g0017
a0007c0014t0002g0017
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.-7-9584A>T
c.-7-9584A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791909
chr22:43791948 G
G
 A
A
 1 a0008c0008t0001g0202
a0008c0008t0001g0202
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.-7-9623C>T
c.-7-9623C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43791948
chr22:43792077 G
G
 C
C
 1 a0031c0022t0001g0237
a0031c0022t0001g0237
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-9752C>G
c.-7-9752C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792077
chr22:43792440 A
A
 C
C
 71 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(68): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 71 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-10115T>G
c.-7-10115T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792440
chr22:43792447 G
G
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-10122C>A
c.-7-10122C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792447
chr22:43792578 G
G
 A
A
 1 a0032c0042t0001g0275
a0032c0042t0001g0275
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.-7-10253C>T
c.-7-10253C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792578
chr22:43792680 G
G
 C
C
 1 a0006c0006t0001g0163
a0006c0006t0001g0163
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.-7-10355C>G
c.-7-10355C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792680
chr22:43792765 G
G
 A
A
 1 a0004c0005t0001g0248
a0004c0005t0001g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.-7-10440C>T
c.-7-10440C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792765
chr22:43792782 C
C
 T
T
 1 a0002c0002t0001g0147
a0002c0002t0001g0147
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.-7-10457G>A
c.-7-10457G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792782
chr22:43792841 C
C
 T
T
 270 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(267): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0013c0018t0001g0090
a0013c0018t0001g0092
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0022c0039t0001g0091
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 270 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(267): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-10516G>A
c.-7-10516G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792841
chr22:43792916 G
G
 A
A
 153 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(150): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0027c0030t0009g0290
a0030c0032t0001g0126
 153 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-10591C>T
c.-7-10591C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792916
chr22:43792938 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.-7-10613G>A
c.-7-10613G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43792938
chr22:43793068 C
C
 T
T
 152 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(149): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0030c0032t0001g0126
 152 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-10743G>A
c.-7-10743G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43793068
chr22:43793348 A
A
 G
G
 1 a0004c0005t0001g0165
a0004c0005t0001g0165
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.-7-11023T>C
c.-7-11023T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43793348
chr22:43793380 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-7-11055G>A
c.-7-11055G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43793380
chr22:43793493 C
C
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-11168G>A
c.-7-11168G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43793493
chr22:43793706 A
A
 ACTGTAGC
others(19): Show 
ACTGTAGCCTAGAGAAATTCAGCATTG
 71 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(68): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 71 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-11382_-7-11381i
others(28): Show 
c.-7-11382_-7-11381insCAATGCTGAATTTCTCTAGGCTACAG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43793706
chr22:43794035 A
A
 T
T
 71 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(68): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 71 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(68): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-11710T>A
c.-7-11710T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794035
chr22:43794200 T
T
 C
C
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.-7-11875A>G
c.-7-11875A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794200
chr22:43794223 C
C
 T
T
 1 a0004c0005t0001g0247
a0004c0005t0001g0247
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.-7-11898G>A
c.-7-11898G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794223
chr22:43794227 C
C
 T
T
 1 a0006c0006t0001g0269
a0006c0006t0001g0269
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.-7-11902G>A
c.-7-11902G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794227
chr22:43794228 G
G
 A
A
 6 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(3): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 6 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(3): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-7-11903C>T
c.-7-11903C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794228
chr22:43794271 T
T
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-7-11946A>G
c.-7-11946A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794271
chr22:43794301 A
A
 T
T
 165 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(162): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0016c0026t0001g0152
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 165 HG00099.hp1
HG00280.hp2
HG00323.hp1
others(162): Show 
HG00099.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-11976T>A
c.-7-11976T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794301
chr22:43794410 A
A
 G
G
 3 a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
 3 HG02622.hp1
HG03195.hp2
NA20129.hp2
HG02622.hp1
HG03195.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-12085T>C
c.-7-12085T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794410
chr22:43794665 T
T
 C
C
 1 a0002c0002t0001g0259
a0002c0002t0001g0259
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.-7-12340A>G
c.-7-12340A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794665
chr22:43794698 G
G
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-7-12373C>A
c.-7-12373C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794698
chr22:43794821 T
T
 A
A
 3 a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
 3 HG01884.hp2
HG02280.hp1
NA19030.hp1
HG01884.hp2
HG02280.hp1
NA19030.hp1
 intron_variant MODIFIER c.-7-12496A>T
c.-7-12496A>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43794821
chr22:43795041 A
A
 G
G
 28 a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
others(25): Show 
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
 28 HG00323.hp1
HG01070.hp1
HG01071.hp1
others(25): Show 
HG00323.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01261.hp2
HG01433.hp2
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02257.hp1
HG03491.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.-7-12716T>C
c.-7-12716T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795041
chr22:43795433 A
A
 G
G
 9 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(6): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 9 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.-7-13108T>C
c.-7-13108T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795433
chr22:43795515 C
C
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-7-13190G>A
c.-7-13190G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795515
chr22:43795520 C
C
 T
T
 3 a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
 3 HG02622.hp1
HG03195.hp2
NA20129.hp2
HG02622.hp1
HG03195.hp2
NA20129.hp2
 intron_variant MODIFIER c.-7-13195G>A
c.-7-13195G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795520
chr22:43795586 CT
CT
 C
C
 93 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(90): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0027c0030t0009g0290
 93 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01884.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-7-13262delA
c.-7-13262delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795586
chr22:43795612 A
A
 C
C
 1 a0003c0003t0001g0183
a0003c0003t0001g0183
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.-7-13287T>G
c.-7-13287T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795612
chr22:43795643 G
G
 A
A
 60 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(57): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 60 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(57): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-7-13318C>T
c.-7-13318C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795643
chr22:43795657 G
G
 T
T
 1 a0013c0018t0001g0090
a0013c0018t0001g0090
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.-7-13332C>A
c.-7-13332C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795657
chr22:43795775 A
A
 G
G
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-8+13220T>C
c.-8+13220T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795775
chr22:43795819 A
A
 AAC
AAC
 4 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0008c0008t0001g0026
 4 NA18947.hp1
NA18960.hp1
NA18965.hp1
others(1): Show 
NA18947.hp1
NA18960.hp1
NA18965.hp1
NA19010.hp2
 intron_variant MODIFIER c.-8+13174_-8+13175d
others(4): Show 
c.-8+13174_-8+13175dupGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795819
chr22:43795819 AAC
AAC
 A
A
 12 a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
others(9): Show 
a0001c0001t0001g0056
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0002c0002t0001g0122
a0008c0008t0001g0202
 12 HG00639.hp1
HG00735.hp1
HG02145.hp2
others(9): Show 
HG00639.hp1
HG00735.hp1
HG02145.hp2
HG02300.hp2
NA18906.hp2
NA18963.hp1
NA18999.hp1
NA19005.hp1
NA19009.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.-8+13174_-8+13175d
others(4): Show 
c.-8+13174_-8+13175delGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795819
chr22:43795819 AACAC
AACAC
 A
A
 3 a0002c0002t0001g0140
a0014c0017t0001g0282
a0014c0017t0001g0283
a0002c0002t0001g0140
a0014c0017t0001g0282
a0014c0017t0001g0283
 3 HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
 intron_variant MODIFIER c.-8+13172_-8+13175d
others(6): Show 
c.-8+13172_-8+13175delGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795819
chr22:43795819 AACACAC
AACACAC
 A
A
 128 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(125): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 128 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(125): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+13170_-8+13175d
others(8): Show 
c.-8+13170_-8+13175delGTGTGT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795819
chr22:43795838 A
A
 T
T
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.-8+13157T>A
c.-8+13157T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795838
chr22:43795909 C
C
 CCA
CCA
 9 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
others(6): Show 
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0123
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
 9 HG01934.hp1
HG02145.hp1
HG02280.hp2
others(6): Show 
HG01934.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02976.hp1
HG03540.hp2
HG03579.hp2
 intron_variant MODIFIER c.-8+13084_-8+13085d
others(4): Show 
c.-8+13084_-8+13085dupTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795909
chr22:43795983 C
C
 A
A
 4 a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
others(1): Show 
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
 4 HG02040.hp2
NA18957.hp2
NA18961.hp2
others(1): Show 
HG02040.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
 intron_variant MODIFIER c.-8+13012G>T
c.-8+13012G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43795983
chr22:43796021 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.-8+12974G>A
c.-8+12974G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796021
chr22:43796027 C
C
 A
A
 1 a0006c0006t0001g0269
a0006c0006t0001g0269
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.-8+12968G>T
c.-8+12968G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796027
chr22:43796101 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-8+12894A>G
c.-8+12894A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796101
chr22:43796138 G
G
 A
A
 40 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(37): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
 40 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(37): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+12857C>T
c.-8+12857C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796138
chr22:43796221 C
C
 T
T
 3 a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
 3 HG02622.hp1
HG03195.hp2
NA20129.hp2
HG02622.hp1
HG03195.hp2
NA20129.hp2
 intron_variant MODIFIER c.-8+12774G>A
c.-8+12774G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796221
chr22:43796267 T
T
 C
C
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-8+12728A>G
c.-8+12728A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796267
chr22:43796569 G
G
 A
A
 2 a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0121
a0002c0002t0001g0129
 2 HG01884.hp1
HG02809.hp1
HG01884.hp1
HG02809.hp1
 intron_variant MODIFIER c.-8+12426C>T
c.-8+12426C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796569
chr22:43796591 G
G
 A
A
 2 a0001c0023t0001g0254
a0031c0022t0001g0237
a0001c0023t0001g0254
a0031c0022t0001g0237
 2 HG02622.hp1
NA20129.hp2
HG02622.hp1
NA20129.hp2
 intron_variant MODIFIER c.-8+12404C>T
c.-8+12404C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796591
chr22:43796681 A
A
 G
G
 1 a0004c0005t0001g0088
a0004c0005t0001g0088
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.-8+12314T>C
c.-8+12314T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796681
chr22:43796716 G
G
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+12279C>A
c.-8+12279C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796716
chr22:43796809 C
C
 A
A
 3 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
 3 HG03209.hp1
NA19043.hp1
NA19240.hp2
HG03209.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-8+12186G>T
c.-8+12186G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796809
chr22:43796898 C
C
 T
T
 1 a0010c0011t0001g0096
a0010c0011t0001g0096
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.-8+12097G>A
c.-8+12097G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796898
chr22:43796907 G
G
 A
A
 10 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(7): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0021c0036t0001g0138
 10 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(7): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03130.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.-8+12088C>T
c.-8+12088C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796907
chr22:43796934 T
T
 C
C
 2 a0001c0023t0001g0254
a0031c0022t0001g0237
a0001c0023t0001g0254
a0031c0022t0001g0237
 2 HG02622.hp1
NA20129.hp2
HG02622.hp1
NA20129.hp2
 intron_variant MODIFIER c.-8+12061A>G
c.-8+12061A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43796934
chr22:43797029 G
G
 A
A
 7 a0002c0021t0001g0250
a0004c0005t0001g0247
a0004c0005t0001g0248
others(4): Show 
a0002c0021t0001g0250
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
 7 HG02698.hp1
NA18945.hp1
NA18951.hp1
others(4): Show 
HG02698.hp1
NA18945.hp1
NA18951.hp1
NA18962.hp1
NA18963.hp2
NA19000.hp1
NA19060.hp1
 intron_variant MODIFIER c.-8+11966C>T
c.-8+11966C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797029
chr22:43797237 C
C
 T
T
 10 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(7): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0021c0036t0001g0138
 10 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(7): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03130.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.-8+11758G>A
c.-8+11758G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797237
chr22:43797285 G
G
 C
C
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-8+11710C>G
c.-8+11710C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797285
chr22:43797435 C
C
 G
G
 35 a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
others(32): Show 
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
 35 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(32): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02735.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+11560G>C
c.-8+11560G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797435
chr22:43797486 G
G
 C
C
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.-8+11509C>G
c.-8+11509C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797486
chr22:43797510 T
T
 C
C
 1 a0001c0001t0001g0285
a0001c0001t0001g0285
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.-8+11485A>G
c.-8+11485A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797510
chr22:43797701 C
C
 T
T
 70 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(67): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
 70 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(67): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+11294G>A
c.-8+11294G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797701
chr22:43797746 A
A
 C
C
 133 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(130): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 133 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(130): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+11249T>G
c.-8+11249T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797746
chr22:43797937 G
G
 A
A
 100 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(97): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0026c0028t0003g0003
 100 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(97): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.-8+11058C>T
c.-8+11058C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43797937
chr22:43798132 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-8+10863A>G
c.-8+10863A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798132
chr22:43798143 C
C
 T
T
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-8+10852G>A
c.-8+10852G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798143
chr22:43798471 G
G
 A
A
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.-8+10524C>T
c.-8+10524C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798471
chr22:43798513 C
C
 T
T
 59 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(56): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 59 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(56): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.-8+10482G>A
c.-8+10482G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798513
chr22:43798651 C
C
 T
T
 1 a0009c0010t0001g0148
a0009c0010t0001g0148
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.-8+10344G>A
c.-8+10344G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798651
chr22:43798799 C
C
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-8+10196G>A
c.-8+10196G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798799
chr22:43798825 A
A
 G
G
 1 a0003c0003t0001g0186
a0003c0003t0001g0186
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.-8+10170T>C
c.-8+10170T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798825
chr22:43798945 C
C
 T
T
 1 a0004c0005t0001g0248
a0004c0005t0001g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.-8+10050G>A
c.-8+10050G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43798945
chr22:43799074 G
G
 A
A
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-8+9921C>T
c.-8+9921C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799074
chr22:43799163 C
C
 CA
CA
 42 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(39): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
a0028c0041t0001g0189
a0031c0022t0001g0237
 42 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02451.hp1
HG02622.hp1
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+9831dupT
c.-8+9831dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799163
chr22:43799176 A
A
 T
T
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-8+9819T>A
c.-8+9819T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799176
chr22:43799240 G
G
 C
C
 10 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(7): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 10 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(7): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
 intron_variant MODIFIER c.-8+9755C>G
c.-8+9755C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799240
chr22:43799329 C
C
 CCA
CCA
 7 a0001c0001t0001g0087
a0004c0005t0001g0022
a0004c0009t0001g0176
others(4): Show 
a0001c0001t0001g0087
a0004c0005t0001g0022
a0004c0009t0001g0176
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
 7 HG01433.hp1
HG01884.hp2
HG02280.hp1
others(4): Show 
HG01433.hp1
HG01884.hp2
HG02280.hp1
NA18522.hp2
NA18941.hp1
NA18960.hp2
NA19030.hp1
 intron_variant MODIFIER c.-8+9664_-8+9665dup
others(2): Show 
c.-8+9664_-8+9665dupTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 C
C
 CCACA
CCACA
 19 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(16): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0014c0017t0001g0282
a0014c0017t0001g0283
 19 HG01175.hp2
HG02109.hp1
HG02293.hp2
others(16): Show 
HG01175.hp2
HG02109.hp1
HG02293.hp2
HG02572.hp1
HG02818.hp2
HG03017.hp1
HG03139.hp2
HG03209.hp1
HG03491.hp2
HG03492.hp1
HG04228.hp2
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-8+9662_-8+9665dup
others(4): Show 
c.-8+9662_-8+9665dupTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 C
C
 CCACACA
CCACACA
 7 a0001c0001t0001g0081
a0001c0001t0001g0153
a0001c0023t0001g0254
others(4): Show 
a0001c0001t0001g0081
a0001c0001t0001g0153
a0001c0023t0001g0254
a0004c0012t0001g0097
a0010c0011t0001g0096
a0010c0011t0001g0098
a0026c0028t0003g0003
 7 HG00099.hp1
HG01496.hp2
HG02622.hp1
others(4): Show 
HG00099.hp1
HG01496.hp2
HG02622.hp1
HG02738.hp1
NA18522.hp1
NA18939.hp1
NA18983.hp1
 intron_variant MODIFIER c.-8+9660_-8+9665dup
others(6): Show 
c.-8+9660_-8+9665dupTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 C
C
 CCACACAC
others(1): Show 
CCACACACA
 14 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(11): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0013
a0005c0004t0001g0234
a0005c0045t0001g0101
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0017c0025t0002g0011
a0024c0033t0001g0181
a0031c0022t0001g0237
 14 HG01070.hp1
HG01071.hp1
HG01261.hp2
others(11): Show 
HG01070.hp1
HG01071.hp1
HG01261.hp2
HG01433.hp2
HG02572.hp2
HG02615.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03139.hp1
HG06807.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.-8+9658_-8+9665dup
others(8): Show 
c.-8+9658_-8+9665dupTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 C
C
 CCACACAC
others(3): Show 
CCACACACACA
 45 a0001c0001t0002g0010
a0002c0002t0001g0111
a0002c0002t0001g0115
others(42): Show 
a0001c0001t0002g0010
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0129
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0037t0001g0119
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0015c0024t0001g0128
a0021c0036t0001g0138
a0029c0031t0002g0012
 45 HG00323.hp1
HG00642.hp2
HG01074.hp1
others(42): Show 
HG00323.hp1
HG00642.hp2
HG01074.hp1
HG01081.hp2
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01943.hp1
HG02055.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.-8+9656_-8+9665dup
others(10): Show 
c.-8+9656_-8+9665dupTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 C
C
 CCACACAC
others(5): Show 
CCACACACACACA
 7 a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0133
others(4): Show 
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0133
a0002c0019t0001g0124
a0002c0019t0001g0125
a0004c0012t0001g0019
a0005c0004t0001g0132
 7 HG01934.hp1
HG02040.hp2
HG02083.hp1
others(4): Show 
HG01934.hp1
HG02040.hp2
HG02083.hp1
HG02280.hp2
HG02886.hp2
HG02976.hp1
NA18906.hp2
 intron_variant MODIFIER c.-8+9654_-8+9665dup
others(12): Show 
c.-8+9654_-8+9665dupTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 C
C
 CCACACAC
others(7): Show 
CCACACACACACACA
 2 a0002c0002t0001g0139
a0030c0032t0001g0126
a0002c0002t0001g0139
a0030c0032t0001g0126
 2 HG01099.hp1
HG02717.hp1
HG01099.hp1
HG02717.hp1
 intron_variant MODIFIER c.-8+9652_-8+9665dup
others(14): Show 
c.-8+9652_-8+9665dupTGTGTGTGTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 CCACA
CCACA
 C
C
 44 a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
others(41): Show 
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0018c0044t0001g0221
a0019c0043t0001g0224
 44 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(41): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+9662_-8+9665del
others(4): Show 
c.-8+9662_-8+9665delTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799329 CCACACA
CCACACA
 C
C
 5 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(2): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0028c0041t0001g0189
 5 HG00280.hp1
HG01081.hp1
HG01175.hp1
others(2): Show 
HG00280.hp1
HG01081.hp1
HG01175.hp1
HG02451.hp1
HG03209.hp2
 intron_variant MODIFIER c.-8+9660_-8+9665del
others(6): Show 
c.-8+9660_-8+9665delTGTGTG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799329
chr22:43799432 A
A
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-8+9563T>G
c.-8+9563T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799432
chr22:43799483 T
T
 C
C
 60 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(57): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 60 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(57): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-8+9512A>G
c.-8+9512A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799483
chr22:43799774 C
C
 T
T
 238 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(235): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 238 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(235): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+9221G>A
c.-8+9221G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43799774
chr22:43800083 C
C
 G
G
 3 a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
 3 HG01515.hp2
HG01517.hp2
HG02300.hp1
HG01515.hp2
HG01517.hp2
HG02300.hp1
 intron_variant MODIFIER c.-8+8912G>C
c.-8+8912G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43800083
chr22:43800087 C
C
 A
A
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+8908G>T
c.-8+8908G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43800087
chr22:43800303 C
C
 T
T
 1 a0002c0002t0001g0139
a0002c0002t0001g0139
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.-8+8692G>A
c.-8+8692G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43800303
chr22:43800357 A
A
 T
T
 267 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(264): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+8638T>A
c.-8+8638T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43800357
chr22:43800469 G
G
 A
A
 10 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(7): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 10 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(7): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
 intron_variant MODIFIER c.-8+8526C>T
c.-8+8526C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43800469
chr22:43800954 G
G
 C
C
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-8+8041C>G
c.-8+8041C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43800954
chr22:43800974 G
G
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-8+8021C>G
c.-8+8021C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43800974
chr22:43801074 G
G
 A
A
 1 a0005c0004t0001g0127
a0005c0004t0001g0127
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.-8+7921C>T
c.-8+7921C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801074
chr22:43801107 GT
GT
 G
G
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-8+7887delA
c.-8+7887delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801107
chr22:43801172 A
A
 C
C
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-8+7823T>G
c.-8+7823T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801172
chr22:43801345 T
T
 C
C
 1 a0012c0016t0001g0281
a0012c0016t0001g0281
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.-8+7650A>G
c.-8+7650A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801345
chr22:43801676 AT
AT
 A
A
 9 a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
others(6): Show 
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
 9 HG01496.hp1
HG02723.hp1
HG02895.hp1
others(6): Show 
HG01496.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp2
HG03453.hp2
HG03516.hp1
NA18906.hp1
 intron_variant MODIFIER c.-8+7318delA
c.-8+7318delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801676
chr22:43801696 G
G
 A
A
 10 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(7): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 10 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(7): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
 intron_variant MODIFIER c.-8+7299C>T
c.-8+7299C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801696
chr22:43801877 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.-8+7118G>A
c.-8+7118G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801877
chr22:43801895 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-8+7100C>T
c.-8+7100C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43801895
chr22:43802006 G
G
 A
A
 58 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(55): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 58 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(55): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.-8+6989C>T
c.-8+6989C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802006
chr22:43802135 C
C
 T
T
 72 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
others(69): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0017c0025t0002g0011
a0021c0036t0001g0138
a0029c0031t0002g0012
a0030c0032t0001g0126
 72 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(69): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19030.hp2
NA19043.hp2
NA19070.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.-8+6860G>A
c.-8+6860G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802135
chr22:43802156 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-8+6839C>T
c.-8+6839C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802156
chr22:43802266 A
A
 G
G
 6 a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
others(3): Show 
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0005c0004t0001g0234
a0028c0041t0001g0189
 6 HG00280.hp1
HG01081.hp1
HG01175.hp1
others(3): Show 
HG00280.hp1
HG01081.hp1
HG01175.hp1
HG02451.hp1
HG03209.hp2
NA20805.hp1
 intron_variant MODIFIER c.-8+6729T>C
c.-8+6729T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802266
chr22:43802410 A
A
 G
G
 4 a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
others(1): Show 
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0038t0001g0260
 4 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(1): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02970.hp2
 intron_variant MODIFIER c.-8+6585T>C
c.-8+6585T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802410
chr22:43802530 C
C
 CA
CA
 129 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0083
others(126): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0153
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 129 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(126): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+6464dupT
c.-8+6464dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802530
chr22:43802582 A
A
 C
C
 1 a0003c0003t0001g0207
a0003c0003t0001g0207
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-8+6413T>G
c.-8+6413T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802582
chr22:43802874 T
T
 C
C
 1 a0016c0026t0001g0152
a0016c0026t0001g0152
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.-8+6121A>G
c.-8+6121A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802874
chr22:43802897 T
T
 C
C
 3 a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
a0001c0023t0001g0254
a0023c0034t0001g0082
a0031c0022t0001g0237
 3 HG02622.hp1
HG03195.hp2
NA20129.hp2
HG02622.hp1
HG03195.hp2
NA20129.hp2
 intron_variant MODIFIER c.-8+6098A>G
c.-8+6098A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802897
chr22:43802978 T
T
 C
C
 1 a0015c0024t0001g0128
a0015c0024t0001g0128
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-8+6017A>G
c.-8+6017A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43802978
chr22:43803419 G
G
 C
C
 131 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(128): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 131 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(128): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+5576C>G
c.-8+5576C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43803419
chr22:43803544 A
A
 C
C
 1 a0003c0003t0001g0206
a0003c0003t0001g0206
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.-8+5451T>G
c.-8+5451T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43803544
chr22:43803616 G
G
 A
A
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-8+5379C>T
c.-8+5379C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43803616
chr22:43803684 T
T
 C
C
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-8+5311A>G
c.-8+5311A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43803684
chr22:43803698 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.-8+5297C>T
c.-8+5297C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43803698
chr22:43803700 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-8+5295C>T
c.-8+5295C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43803700
chr22:43804166 A
A
 G
G
 105 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(102): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0006c0006t0001g0269
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0027c0030t0009g0290
 105 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-8+4829T>C
c.-8+4829T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804166
chr22:43804222 C
C
 A
A
 5 a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
others(2): Show 
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
 5 HG01496.hp1
HG02723.hp1
HG02965.hp2
others(2): Show 
HG01496.hp1
HG02723.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp2
 intron_variant MODIFIER c.-8+4773G>T
c.-8+4773G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804222
chr22:43804224 G
G
 A
A
 1 a0001c0013t0001g0233
a0001c0013t0001g0233
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.-8+4771C>T
c.-8+4771C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804224
chr22:43804232 A
A
 C
C
 13 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-8+4763T>G
c.-8+4763T>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804232
chr22:43804502 G
G
 A
A
 4 a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
others(1): Show 
a0005c0004t0001g0020
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
 4 HG02040.hp2
NA18957.hp2
NA18961.hp2
others(1): Show 
HG02040.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
 intron_variant MODIFIER c.-8+4493C>T
c.-8+4493C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804502
chr22:43804584 T
T
 C
C
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-8+4411A>G
c.-8+4411A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804584
chr22:43804604 T
T
 C
C
 1 a0001c0001t0002g0013
a0001c0001t0002g0013
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.-8+4391A>G
c.-8+4391A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804604
chr22:43804675 T
T
 G
G
 268 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(265): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0269
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 268 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(265): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+4320A>C
c.-8+4320A>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804675
chr22:43804740 G
G
 A
A
 1 a0003c0003t0001g0186
a0003c0003t0001g0186
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.-8+4255C>T
c.-8+4255C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804740
chr22:43804755 C
C
 T
T
 268 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(265): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0001c0047t0001g0178
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0021t0001g0179
a0002c0021t0001g0250
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0020t0001g0161
a0005c0020t0001g0169
a0005c0045t0001g0101
a0006c0006t0001g0269
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0020c0048t0001g0177
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 268 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(265): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+4240G>A
c.-8+4240G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804755
chr22:43804758 C
C
 CA
CA
 6 a0007c0014t0002g0016
a0009c0010t0001g0149
a0009c0010t0001g0150
others(3): Show 
a0007c0014t0002g0016
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 6 HG01069.hp1
HG01884.hp2
HG02109.hp1
others(3): Show 
HG01069.hp1
HG01884.hp2
HG02109.hp1
HG02280.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-8+4236dupT
c.-8+4236dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804758
chr22:43804758 CA
CA
 C
C
 125 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(122): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0023t0001g0254
a0001c0035t0001g0235
a0001c0047t0001g0178
a0002c0002t0001g0133
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0021t0001g0250
a0002c0038t0001g0260
a0004c0005t0001g0021
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0006c0006t0001g0163
a0006c0006t0001g0257
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0002g0004
a0007c0007t0002g0005
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0012c0016t0001g0274
a0013c0018t0001g0090
a0020c0048t0001g0177
a0022c0039t0001g0091
a0023c0034t0001g0082
a0031c0022t0001g0237
a0032c0042t0001g0275
 125 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(122): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.-8+4236delT
c.-8+4236delT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804758
chr22:43804758 CAA
CAA
 C
C
 65 a0001c0001t0001g0087
a0001c0001t0002g0006
a0002c0002t0001g0111
others(62): Show 
a0001c0001t0001g0087
a0001c0001t0002g0006
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0259
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0021c0036t0001g0138
a0024c0033t0001g0181
a0027c0030t0009g0290
a0030c0032t0001g0126
 65 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(62): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02809.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-8+4235_-8+4236del
others(2): Show 
c.-8+4235_-8+4236delTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804758
chr22:43804758 CAAAA
CAAAA
 C
C
 35 a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
others(32): Show 
a0001c0013t0001g0208
a0001c0013t0001g0233
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0008g0287
a0018c0044t0001g0221
a0019c0043t0001g0224
 35 HG00423.hp1
HG00438.hp2
HG00597.hp1
others(32): Show 
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG02074.hp2
HG02155.hp2
HG02735.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
 intron_variant MODIFIER c.-8+4233_-8+4236del
others(4): Show 
c.-8+4233_-8+4236delTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804758
chr22:43804780 C
C
 G
G
 10 a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
others(7): Show 
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 10 HG02559.hp2
HG02622.hp2
HG02723.hp2
others(7): Show 
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
 intron_variant MODIFIER c.-8+4215G>C
c.-8+4215G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804780
chr22:43804889 A
A
 G
G
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-8+4106T>C
c.-8+4106T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804889
chr22:43804916 A
A
 G
G
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-8+4079T>C
c.-8+4079T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43804916
chr22:43805110 C
C
 T
T
 1 a0001c0001t0002g0006
a0001c0001t0002g0006
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.-8+3885G>A
c.-8+3885G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805110
chr22:43805156 A
A
 G
G
 1 a0021c0036t0001g0138
a0021c0036t0001g0138
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.-8+3839T>C
c.-8+3839T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805156
chr22:43805162 C
C
 T
T
 2 a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0094
a0004c0012t0001g0095
 2 HG03834.hp2
HG03942.hp1
HG03834.hp2
HG03942.hp1
 intron_variant MODIFIER c.-8+3833G>A
c.-8+3833G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805162
chr22:43805174 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-8+3821A>G
c.-8+3821A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805174
chr22:43805263 GAATT
GAATT
 G
G
 3 a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
 3 NA18999.hp1
NA19009.hp1
NA19084.hp1
NA18999.hp1
NA19009.hp1
NA19084.hp1
 intron_variant MODIFIER c.-8+3728_-8+3731del
others(4): Show 
c.-8+3728_-8+3731delAATT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805263
chr22:43805320 T
T
 C
C
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-8+3675A>G
c.-8+3675A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805320
chr22:43805450 C
C
 A
A
 5 a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0079
a0001c0001t0001g0080
 5 HG00423.hp2
NA18945.hp2
NA18972.hp2
others(2): Show 
HG00423.hp2
NA18945.hp2
NA18972.hp2
NA18979.hp2
NA19083.hp1
 intron_variant MODIFIER c.-8+3545G>T
c.-8+3545G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805450
chr22:43805654 T
T
 C
C
 132 a0001c0001t0001g0071
a0001c0001t0001g0076
a0001c0001t0001g0077
others(129): Show 
a0001c0001t0001g0071
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 132 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(129): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+3341A>G
c.-8+3341A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805654
chr22:43805743 G
G
 C
C
 60 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(57): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0021c0036t0001g0138
a0030c0032t0001g0126
 60 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(57): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19007.hp1
NA19070.hp1
NA19091.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-8+3252C>G
c.-8+3252C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805743
chr22:43805931 G
G
 A
A
 1 a0026c0028t0003g0003
a0026c0028t0003g0003
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.-8+3064C>T
c.-8+3064C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43805931
chr22:43806081 G
G
 A
A
 29 a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
others(26): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0002c0021t0001g0250
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0162
a0004c0005t0001g0165
a0004c0005t0001g0172
a0004c0005t0001g0173
a0004c0005t0001g0174
a0004c0005t0001g0175
a0004c0005t0001g0180
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
a0004c0009t0001g0166
a0004c0009t0001g0167
a0004c0009t0001g0168
a0004c0009t0001g0170
a0004c0009t0001g0171
a0004c0009t0001g0176
a0005c0020t0001g0161
a0005c0020t0001g0169
a0020c0048t0001g0177
 29 HG00099.hp2
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG02074.hp1
HG02135.hp1
HG02683.hp2
HG02698.hp1
HG04199.hp2
NA18941.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18967.hp2
NA18983.hp2
NA18999.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA20905.hp1
 intron_variant MODIFIER c.-8+2914C>T
c.-8+2914C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806081
chr22:43806118 A
A
 T
T
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-8+2877T>A
c.-8+2877T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806118
chr22:43806185 G
G
 C
C
 1 a0004c0005t0001g0180
a0004c0005t0001g0180
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-8+2810C>G
c.-8+2810C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806185
chr22:43806185 G
G
 GA
GA
 131 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(128): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 131 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(128): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+2809_-8+2810ins
others(1): Show 
c.-8+2809_-8+2810insT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806185
chr22:43806185 GGGGGAGG
others(3): Show 
GGGGGAGGGGA
 G
G
 2 a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0267
a0006c0006t0001g0268
 2 HG01346.hp1
NA20805.hp2
HG01346.hp1
NA20805.hp2
 intron_variant MODIFIER c.-8+2800_-8+2809del
others(10): Show 
c.-8+2800_-8+2809delTCCCCTCCCC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806185
chr22:43806211 A
A
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-8+2784T>C
c.-8+2784T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806211
chr22:43806264 A
A
 AT
AT
 7 a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0001g0190
others(4): Show 
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0001g0190
a0001c0001t0001g0255
a0001c0013t0001g0187
a0004c0005t0001g0162
a0004c0005t0001g0247
 7 HG00099.hp2
HG01433.hp1
HG02040.hp1
others(4): Show 
HG00099.hp2
HG01433.hp1
HG02040.hp1
HG02451.hp1
HG04115.hp1
NA18963.hp2
NA18967.hp1
 intron_variant MODIFIER c.-8+2730dupA
c.-8+2730dupA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806264
chr22:43806290 C
C
 A
A
 1 a0004c0012t0001g0134
a0004c0012t0001g0134
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-8+2705G>T
c.-8+2705G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806290
chr22:43806413 C
C
 T
T
 238 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(235): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 238 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(235): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+2582G>A
c.-8+2582G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806413
chr22:43806490 C
C
 T
T
 57 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(54): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0014c0017t0001g0282
a0014c0017t0001g0283
a0018c0044t0001g0221
a0019c0043t0001g0224
a0024c0033t0001g0181
a0026c0028t0003g0003
a0028c0041t0001g0189
 57 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(54): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01516.hp1
HG01517.hp1
HG01943.hp2
HG02074.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA19004.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+2505G>A
c.-8+2505G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806490
chr22:43806574 G
G
 A
A
 4 a0005c0004t0001g0093
a0005c0004t0001g0135
a0005c0004t0001g0136
others(1): Show 
a0005c0004t0001g0093
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
 4 HG00323.hp1
HG01081.hp2
HG01943.hp1
others(1): Show 
HG00323.hp1
HG01081.hp2
HG01943.hp1
HG02257.hp1
 intron_variant MODIFIER c.-8+2421C>T
c.-8+2421C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806574
chr22:43806623 C
C
 T
T
 1 a0005c0020t0001g0161
a0005c0020t0001g0161
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.-8+2372G>A
c.-8+2372G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806623
chr22:43806676 G
G
 A
A
 74 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(71): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0258
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0035t0001g0235
a0001c0046t0001g0067
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0023c0034t0001g0082
 74 HG00280.hp2
HG00423.hp2
HG00558.hp2
others(71): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01169.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA18999.hp1
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19070.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19087.hp1
NA20905.hp2
 intron_variant MODIFIER c.-8+2319C>T
c.-8+2319C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806676
chr22:43806909 C
C
 G
G
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-8+2086G>C
c.-8+2086G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43806909
chr22:43807386 C
C
 T
T
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-8+1609G>A
c.-8+1609G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43807386
chr22:43807532 C
C
 T
T
 1 a0027c0030t0009g0290
a0027c0030t0009g0290
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-8+1463G>A
c.-8+1463G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43807532
chr22:43807771 T
T
 C
C
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-8+1224A>G
c.-8+1224A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43807771
chr22:43807865 C
C
 T
T
 238 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(235): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 238 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(235): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+1130G>A
c.-8+1130G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43807865
chr22:43808038 G
G
 T
T
 1 a0005c0004t0001g0093
a0005c0004t0001g0093
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.-8+957C>A
c.-8+957C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808038
chr22:43808159 G
G
 A
A
 13 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-8+836C>T
c.-8+836C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808159
chr22:43808269 T
T
 C
C
 132 a0001c0001t0001g0024
a0001c0001t0001g0076
a0001c0001t0001g0077
others(129): Show 
a0001c0001t0001g0024
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0027t0001g0075
a0001c0035t0001g0235
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0026c0028t0003g0003
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
 132 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(129): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp2
NA19066.hp2
NA19070.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8+726A>G
c.-8+726A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808269
chr22:43808311 G
G
 A
A
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-8+684C>T
c.-8+684C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808311
chr22:43808326 C
C
 T
T
 2 a0013c0018t0001g0090
a0022c0039t0001g0091
a0013c0018t0001g0090
a0022c0039t0001g0091
 2 HG01243.hp1
NA20129.hp1
HG01243.hp1
NA20129.hp1
 intron_variant MODIFIER c.-8+669G>A
c.-8+669G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808326
chr22:43808339 G
G
 A
A
 8 a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
others(5): Show 
a0001c0001t0001g0083
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0017c0025t0002g0011
a0029c0031t0002g0012
 8 HG02055.hp1
HG02572.hp2
HG02615.hp2
others(5): Show 
HG02055.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.-8+656C>T
c.-8+656C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808339
chr22:43808367 C
C
 A
A
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-8+628G>T
c.-8+628G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808367
chr22:43808376 A
A
 G
G
 4 a0001c0001t0001g0024
a0001c0013t0001g0187
a0001c0013t0001g0188
others(1): Show 
a0001c0001t0001g0024
a0001c0013t0001g0187
a0001c0013t0001g0188
a0028c0041t0001g0189
 4 HG00280.hp1
HG01070.hp2
HG01175.hp1
others(1): Show 
HG00280.hp1
HG01070.hp2
HG01175.hp1
HG02451.hp1
 intron_variant MODIFIER c.-8+619T>C
c.-8+619T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808376
chr22:43808379 T
T
 C
C
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.-8+616A>G
c.-8+616A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808379
chr22:43808398 C
C
 T
T
 6 a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
others(3): Show 
a0003c0003t0001g0023
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
 6 NA18950.hp2
NA18979.hp1
NA19060.hp2
others(3): Show 
NA18950.hp2
NA18979.hp1
NA19060.hp2
NA19066.hp2
NA19080.hp2
NA19083.hp2
 intron_variant MODIFIER c.-8+597G>A
c.-8+597G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808398
chr22:43808439 C
C
 T
T
 32 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0240
others(29): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0024c0033t0001g0181
a0027c0030t0009g0290
 32 HG01069.hp1
HG01433.hp1
HG01496.hp1
others(29): Show 
HG01069.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.-8+556G>A
c.-8+556G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808439
chr22:43808526 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-8+469C>T
c.-8+469C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808526
chr22:43808648 G
G
 A
A
 5 a0001c0047t0001g0178
a0002c0021t0001g0179
a0004c0005t0001g0022
others(2): Show 
a0001c0047t0001g0178
a0002c0021t0001g0179
a0004c0005t0001g0022
a0004c0005t0001g0180
a0020c0048t0001g0177
 5 NA18941.hp1
NA18967.hp2
NA19010.hp1
others(2): Show 
NA18941.hp1
NA18967.hp2
NA19010.hp1
NA19080.hp1
NA19087.hp2
 intron_variant MODIFIER c.-8+347C>T
c.-8+347C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808648
chr22:43808811 G
G
 T
T
 2 a0014c0017t0001g0282
a0014c0017t0001g0283
a0014c0017t0001g0282
a0014c0017t0001g0283
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.-8+184C>A
c.-8+184C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808811
chr22:43808839 T
T
 C
C
 2 a0001c0023t0001g0254
a0031c0022t0001g0237
a0001c0023t0001g0254
a0031c0022t0001g0237
 2 HG02622.hp1
NA20129.hp2
HG02622.hp1
NA20129.hp2
 intron_variant MODIFIER c.-8+156A>G
c.-8+156A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808839
chr22:43808985 G
G
 A
A
 2 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0073
a0001c0001t0001g0074
 2 NA18939.hp2
NA18984.hp1
NA18939.hp2
NA18984.hp1
 intron_variant MODIFIER c.-8+10C>T
c.-8+10C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 2/31 chr22 43808985
chr22:43809190 C
C
 A
A
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.-144-59G>T
c.-144-59G>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809190
chr22:43809452 T
T
 TA
TA
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-144-322dupT
c.-144-322dupT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809452
chr22:43809455 G
G
 A
A
 238 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(235): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0153
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0236
a0001c0001t0001g0239
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0285
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0010
a0001c0001t0002g0013
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0007g0238
a0001c0013t0001g0031
a0001c0013t0001g0187
a0001c0013t0001g0188
a0001c0013t0001g0208
a0001c0013t0001g0233
a0001c0023t0001g0254
a0001c0027t0001g0075
a0001c0035t0001g0235
a0001c0046t0001g0067
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0002c0038t0001g0260
a0003c0003t0001g0023
a0003c0003t0001g0072
a0003c0003t0001g0182
a0003c0003t0001g0183
a0003c0003t0001g0184
a0003c0003t0001g0185
a0003c0003t0001g0186
a0003c0003t0001g0206
a0003c0003t0001g0207
a0003c0003t0001g0209
a0003c0003t0001g0210
a0003c0003t0001g0211
a0003c0003t0001g0212
a0003c0003t0001g0213
a0003c0003t0001g0214
a0003c0003t0001g0215
a0003c0003t0001g0216
a0003c0003t0001g0217
a0003c0003t0001g0218
a0003c0003t0001g0219
a0003c0003t0001g0220
a0003c0003t0001g0222
a0003c0003t0001g0223
a0003c0003t0001g0225
a0003c0003t0001g0226
a0003c0003t0001g0227
a0003c0003t0001g0228
a0003c0003t0001g0229
a0003c0003t0001g0230
a0003c0003t0001g0231
a0003c0003t0001g0232
a0003c0003t0001g0284
a0003c0003t0008g0287
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0004t0001g0234
a0005c0045t0001g0101
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0008t0001g0202
a0008c0029t0001g0034
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0014c0017t0001g0282
a0014c0017t0001g0283
a0015c0024t0001g0128
a0016c0026t0001g0152
a0017c0025t0002g0011
a0018c0044t0001g0221
a0019c0043t0001g0224
a0021c0036t0001g0138
a0023c0034t0001g0082
a0024c0033t0001g0181
a0026c0028t0003g0003
a0027c0030t0009g0290
a0028c0041t0001g0189
a0029c0031t0002g0012
a0030c0032t0001g0126
a0031c0022t0001g0237
 238 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(235): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18999.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-144-324C>T
c.-144-324C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809455
chr22:43809610 G
G
 C
C
 1 a0001c0001t0001g0239
a0001c0001t0001g0239
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.-144-479C>G
c.-144-479C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809610
chr22:43809610 G
G
 T
T
 31 a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0240
others(28): Show 
a0001c0001t0001g0087
a0001c0001t0001g0153
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0007c0007t0001g0154
a0007c0007t0001g0155
a0007c0007t0001g0156
a0007c0007t0001g0157
a0007c0007t0001g0158
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0002g0004
a0007c0007t0002g0005
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
a0027c0030t0009g0290
 31 HG01069.hp1
HG01433.hp1
HG01496.hp1
others(28): Show 
HG01069.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.-144-479C>A
c.-144-479C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809610
chr22:43809760 A
A
 T
T
 6 a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
others(3): Show 
a0009c0010t0001g0148
a0009c0010t0001g0149
a0009c0010t0001g0150
a0009c0010t0001g0151
a0009c0010t0001g0286
a0016c0026t0001g0152
 6 HG01069.hp1
HG01884.hp2
HG02280.hp1
others(3): Show 
HG01069.hp1
HG01884.hp2
HG02280.hp1
HG02630.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-144-629T>A
c.-144-629T>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809760
chr22:43809872 CT
CT
 C
C
 13 a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
others(10): Show 
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
 13 HG02559.hp2
HG02615.hp1
HG02622.hp2
others(10): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.-144-742delA
c.-144-742delA
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809872
chr22:43809952 G
G
 A
A
 7 a0002c0021t0001g0250
a0004c0005t0001g0247
a0004c0005t0001g0248
others(4): Show 
a0002c0021t0001g0250
a0004c0005t0001g0247
a0004c0005t0001g0248
a0004c0005t0001g0249
a0004c0005t0001g0251
a0004c0005t0001g0252
a0004c0005t0001g0253
 7 HG02698.hp1
NA18945.hp1
NA18951.hp1
others(4): Show 
HG02698.hp1
NA18945.hp1
NA18951.hp1
NA18962.hp1
NA18963.hp2
NA19000.hp1
NA19060.hp1
 intron_variant MODIFIER c.-144-821C>T
c.-144-821C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809952
chr22:43809982 C
C
 G
G
 1 a0006c0006t0001g0265
a0006c0006t0001g0265
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.-144-851G>C
c.-144-851G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809982
chr22:43809985 A
A
 G
G
 10 a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
others(7): Show 
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0021c0036t0001g0138
 10 HG01074.hp1
HG01099.hp1
HG01257.hp2
others(7): Show 
HG01074.hp1
HG01099.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG02602.hp2
HG03130.hp2
HG03654.hp1
NA19007.hp1
 intron_variant MODIFIER c.-144-854T>C
c.-144-854T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43809985
chr22:43810000 A
A
 G
G
 49 a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
others(46): Show 
a0002c0002t0001g0111
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0121
a0002c0002t0001g0122
a0002c0002t0001g0123
a0002c0002t0001g0129
a0002c0002t0001g0133
a0002c0002t0004g0288
a0002c0002t0004g0289
a0002c0019t0001g0124
a0002c0019t0001g0125
a0002c0037t0001g0119
a0004c0012t0001g0019
a0004c0012t0001g0094
a0004c0012t0001g0095
a0004c0012t0001g0097
a0004c0012t0001g0134
a0005c0004t0001g0020
a0005c0004t0001g0093
a0005c0004t0001g0103
a0005c0004t0001g0104
a0005c0004t0001g0105
a0005c0004t0001g0106
a0005c0004t0001g0107
a0005c0004t0001g0108
a0005c0004t0001g0109
a0005c0004t0001g0110
a0005c0004t0001g0127
a0005c0004t0001g0130
a0005c0004t0001g0131
a0005c0004t0001g0132
a0005c0004t0001g0135
a0005c0004t0001g0136
a0005c0004t0001g0137
a0005c0045t0001g0101
a0010c0011t0001g0096
a0010c0011t0001g0098
a0010c0011t0001g0112
a0010c0011t0001g0113
a0010c0011t0001g0114
a0011c0015t0001g0099
a0011c0015t0001g0100
a0011c0015t0001g0102
a0015c0024t0001g0128
a0030c0032t0001g0126
 49 HG00099.hp1
HG00323.hp1
HG00642.hp2
others(46): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18957.hp2
NA18961.hp2
NA18965.hp2
NA18983.hp1
NA18984.hp2
NA19070.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.-144-869T>C
c.-144-869T>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43810000
chr22:43810014 T
T
 C
C
 2 a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0002g0017
a0007c0014t0002g0018
 2 HG02572.hp1
HG03139.hp2
HG02572.hp1
HG03139.hp2
 intron_variant MODIFIER c.-144-883A>G
c.-144-883A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43810014
chr22:43810256 G
G
 A
A
 1 a0001c0023t0001g0254
a0001c0023t0001g0254
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.-144-1125C>T
c.-144-1125C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43810256
chr22:43810298 G
G
 T
T
 3 a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
a0013c0018t0001g0090
a0013c0018t0001g0092
a0022c0039t0001g0091
 3 HG01243.hp1
HG02630.hp1
NA20129.hp1
HG01243.hp1
HG02630.hp1
NA20129.hp1
 intron_variant MODIFIER c.-144-1167C>A
c.-144-1167C>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43810298
chr22:43810383 T
T
 C
C
 14 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0285
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0027t0001g0075
a0026c0028t0003g0003
 14 HG01175.hp2
HG02293.hp2
HG02738.hp1
others(11): Show 
HG01175.hp2
HG02293.hp2
HG02738.hp1
HG02818.hp2
HG03017.hp1
HG03209.hp1
HG04228.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp2
NA18967.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-144-1252A>G
c.-144-1252A>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43810383
chr22:43810649 G
G
 C
C
 9 a0001c0001t0001g0258
a0001c0001t0002g0013
a0002c0002t0001g0259
others(6): Show 
a0001c0001t0001g0258
a0001c0001t0002g0013
a0002c0002t0001g0259
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0264
a0002c0038t0001g0260
a0006c0006t0001g0257
 9 HG02055.hp2
HG02559.hp2
HG02615.hp2
others(6): Show 
HG02055.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02723.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
 intron_variant MODIFIER c.-144-1518C>G
c.-144-1518C>G
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43810649
chr22:43810880 C
C
 T
T
 2 a0004c0005t0001g0088
a0004c0005t0001g0089
a0004c0005t0001g0088
a0004c0005t0001g0089
 2 HG02074.hp1
NA19007.hp2
HG02074.hp1
NA19007.hp2
 intron_variant MODIFIER c.-145+1288G>A
c.-145+1288G>A
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43810880
chr22:43811151 G
G
 A
A
 5 a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
others(2): Show 
a0007c0014t0002g0015
a0007c0014t0002g0016
a0007c0014t0002g0017
a0007c0014t0002g0018
a0007c0014t0005g0014
 5 HG02109.hp1
HG02572.hp1
HG03139.hp2
others(2): Show 
HG02109.hp1
HG02572.hp1
HG03139.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.-145+1017C>T
c.-145+1017C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43811151
chr22:43811363 G
G
 GGGGAA
GGGGAA
 21 a0001c0001t0001g0285
a0003c0003t0001g0284
a0006c0006t0001g0265
others(18): Show 
a0001c0001t0001g0285
a0003c0003t0001g0284
a0006c0006t0001g0265
a0006c0006t0001g0267
a0006c0006t0001g0268
a0006c0006t0001g0269
a0006c0006t0001g0270
a0006c0006t0001g0271
a0006c0006t0001g0272
a0006c0006t0001g0273
a0006c0006t0001g0276
a0006c0006t0001g0277
a0006c0006t0001g0278
a0006c0006t0001g0279
a0006c0006t0001g0280
a0012c0016t0001g0274
a0012c0016t0001g0281
a0012c0016t0006g0266
a0014c0017t0001g0282
a0014c0017t0001g0283
a0032c0042t0001g0275
 21 HG00140.hp2
HG00323.hp2
HG00639.hp2
others(18): Show 
HG00140.hp2
HG00323.hp2
HG00639.hp2
HG01175.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02004.hp1
HG02257.hp2
HG02293.hp1
HG02300.hp1
HG02683.hp1
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
NA18954.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-145+800_-145+804d
others(7): Show 
c.-145+800_-145+804dupTTCCC
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43811363
chr22:43811397 GAAAAGAA
others(5): Show 
GAAAAGAAAAGAA
 G
G
 1 a0023c0034t0001g0082
a0023c0034t0001g0082
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-145+759_-145+770d
others(14): Show 
c.-145+759_-145+770delTTCTTTTCTTTT
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43811397
chr22:43811562 C
C
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-145+606G>C
c.-145+606G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43811562
chr22:43811716 C
C
 G
G
 5 a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
others(2): Show 
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0023c0034t0001g0082
 5 HG03195.hp2
HG03209.hp1
HG06807.hp1
others(2): Show 
HG03195.hp2
HG03209.hp1
HG06807.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-145+452G>C
c.-145+452G>C
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43811716
chr22:43811875 G
G
 A
A
 1 a0007c0014t0002g0018
a0007c0014t0002g0018
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-145+293C>T
c.-145+293C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43811875
chr22:43811972 G
G
 A
A
 3 a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
 3 HG00423.hp2
NA18939.hp1
NA18945.hp2
HG00423.hp2
NA18939.hp1
NA18945.hp2
 intron_variant MODIFIER c.-145+196C>T
c.-145+196C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43811972
chr22:43812042 C
C
 CCTT
CCTT
 66 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
others(63): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0013t0001g0031
a0001c0027t0001g0075
a0001c0046t0001g0067
a0003c0003t0001g0023
a0003c0003t0001g0072
a0004c0005t0001g0021
a0004c0005t0001g0022
a0004c0012t0001g0019
a0005c0004t0001g0020
a0008c0008t0001g0026
a0008c0008t0001g0033
a0008c0008t0001g0035
a0008c0008t0001g0036
a0008c0008t0001g0037
a0008c0008t0001g0038
a0008c0029t0001g0034
a0026c0028t0003g0003
 66 HG00280.hp2
HG00423.hp2
HG00597.hp2
others(63): Show 
HG00280.hp2
HG00423.hp2
HG00597.hp2
HG00621.hp1
HG00642.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01258.hp2
HG01261.hp1
HG01934.hp2
HG01943.hp2
HG02004.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02293.hp2
HG02602.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG03492.hp2
HG03834.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18972.hp2
NA18974.hp1
NA18979.hp2
NA18984.hp1
NA19000.hp2
NA19004.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19087.hp1
 intron_variant MODIFIER c.-145+123_-145+125d
others(5): Show 
c.-145+123_-145+125dupAAG
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43812042
chr22:43812098 G
G
 A
A
 1 a0009c0010t0001g0286
a0009c0010t0001g0286
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-145+70C>T
c.-145+70C>T
EFCAB6 ENSG00000186976.15 transcript ENST00000262726.12 protein_coding 1/31 chr22 43812098

  • 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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