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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EFHD1_chr2_232628604_232687776  EFHD1_chr2_232628604_232687776 (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 80303
ensemblid ENSG00000115468.13
hgncid 29556
symbol EFHD1
name EF-hand domain family member D1
refseq_nuc NM_025202.4
refseq_prot NP_079478.1
ensembl_nuc ENST00000264059.8
ensembl_prot ENSP00000264059.3
mane_status MANE Select
chr chr2
start 232633604
end 232682776
strand +
ver v1.2
region chr2:232633604-232682776
region5000 chr2:232628604-232687776
regionname0 EFHD1_chr2_232633604_232682776
regionname5000 EFHD1_chr2_232628604_232687776

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 239 222 78 28 83 12 19 60 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002 0/0 239 141 12 29 79 4 17 61 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0003 0/0 239 10 4 0 2 0 4 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0004 0/0 239 4 0 4 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0005 0/0 239 2 0 1 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0006 0/0 239 1 0 0 1 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0007 0/0 239 1 0 0 1 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0008 0/0 239 1 0 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 720 151 62 27 32 10 18 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0002 0/0 720 72 8 22 25 4 13 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0003 0/0 720 69 4 7 54 0 4 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0004 0/0 720 64 10 1 51 2 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0005 0/0 720 10 4 0 2 0 4 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0006 0/0 720 5 5 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0007 0/0 720 4 0 4 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0008 0/0 720 2 0 1 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0009 0/0 720 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0010 0/0 720 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0011 0/0 720 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0012 0/0 720 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
c0013 0/0 720 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 1159 169 21 36 87 4 21 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0002 0/1 1159 56 3 7 34 5 6 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0003 1/0 1159 55 12 14 16 4 8 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0004 0/0 1159 31 3 0 25 1 2 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0005 0/0 1159 19 14 1 1 1 2 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0006 0/0 1159 18 17 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0007 0/0 1159 9 8 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0008 0/0 1159 5 4 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0009 0/0 1159 3 3 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0010 0/0 1159 3 1 0 0 1 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0011 0/0 1159 2 2 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0012 0/0 1183 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0013 0/0 1159 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0014 0/0 1159 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0015 0/0 1159 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0016 0/0 1132 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0017 0/0 1159 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0018 0/0 1159 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0019 0/0 1159 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0020 0/0 1159 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0021 0/0 1159 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0022 0/0 1159 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
t0023 0/0 1159 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 4 1 2 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0002 0/0 3 3 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0003 0/0 2 0 0 2 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0004 0/0 2 0 0 2 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0005 0/0 2 0 0 2 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0006 0/0 2 0 2 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0007 0/0 2 0 2 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0008 0/0 2 0 0 0 0 2 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0009 0/0 2 2 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0010 0/0 2 2 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0011 0/0 2 0 0 2 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0012 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0013 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0014 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0015 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0016 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0017 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0018 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0019 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0020 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0021 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0022 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0023 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0024 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0025 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0026 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0027 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0028 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0029 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0030 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0031 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0032 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0033 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0034 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0035 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0036 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0037 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0038 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0039 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0040 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0041 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0042 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0043 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0044 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0045 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0046 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0047 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0048 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0049 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0050 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0051 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0052 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0053 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0054 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0055 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0056 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0057 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0058 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0059 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0060 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0061 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0062 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0063 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0064 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0065 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0066 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0067 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0068 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0069 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0070 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0071 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0072 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0073 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0074 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0075 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0076 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0077 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0078 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0079 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0080 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0081 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0082 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0083 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0084 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0085 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0086 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0087 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0088 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0089 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0090 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0091 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0092 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0093 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0094 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0095 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0096 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0097 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0098 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0099 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0100 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0101 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0102 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0103 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0104 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0105 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0106 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0107 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0108 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0109 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0110 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0111 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0112 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0113 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0114 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0115 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0116 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0117 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0118 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0119 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0120 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0121 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0122 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0123 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0124 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0125 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0126 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0127 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0128 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0129 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0130 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0131 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0132 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0133 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0134 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0135 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0136 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0137 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0138 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0139 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0140 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0141 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0142 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0143 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0144 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0145 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0146 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0147 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0148 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0149 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0150 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0151 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0152 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0153 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0154 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0155 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0156 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0157 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0158 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0159 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0160 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0161 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0162 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0163 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0164 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0165 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0166 1/0 1 0 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0167 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0168 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0169 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0170 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0171 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0172 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0173 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0174 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0175 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0176 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0177 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0178 0/1 1 0 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0179 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0180 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0181 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0182 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0183 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0184 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0185 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0186 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0187 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0188 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0189 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0190 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0191 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0192 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0193 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0194 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0195 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0196 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0197 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0198 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0199 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0200 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0201 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0202 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0203 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0204 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0205 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0206 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0207 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0208 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0209 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0210 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0211 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0212 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0213 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0214 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0215 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0216 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0217 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0218 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0219 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0220 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0221 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0222 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0223 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0224 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0225 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0226 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0227 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0228 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0229 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0230 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0231 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0232 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0233 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0234 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0235 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0236 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0237 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0238 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0239 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0240 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0241 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0242 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0243 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0244 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0245 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0246 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0247 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0248 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0249 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0250 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0251 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0252 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0253 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0254 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0255 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0256 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0257 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0258 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0259 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0260 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0261 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0262 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0263 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0264 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0265 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0266 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0267 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0268 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0269 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0270 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0271 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0272 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0273 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0274 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0275 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0276 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0277 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0278 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0279 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0280 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0281 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0282 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0283 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0284 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0285 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0286 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0287 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0288 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0289 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0290 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0291 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0292 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0293 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0294 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0295 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0296 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0297 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0298 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0299 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0300 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0301 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0302 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0303 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0304 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0305 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0306 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0307 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0308 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0309 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0310 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0311 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0312 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0313 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0314 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0315 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0316 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0317 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0318 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0319 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0320 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0321 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0322 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0323 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0324 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0325 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0326 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0327 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0328 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0329 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0330 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0331 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0332 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0333 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0334 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0335 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0336 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0337 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0338 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0339 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0340 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0341 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0342 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0343 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0344 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0345 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0346 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0347 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0348 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0349 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0350 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0351 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0352 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0353 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0354 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0355 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0356 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0357 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0358 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0359 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0360 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0361 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0362 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0363 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0364 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0365 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0366 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0367 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
g0368 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 720 151 62 27 32 10 18 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0004 0/0 720 64 10 1 51 2 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0006 0/0 720 5 5 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0009 0/0 720 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0011 0/0 720 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0002 0/0 720 72 8 22 25 4 13 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0003 0/0 720 69 4 7 54 0 4 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0003c0005 0/0 720 10 4 0 2 0 4 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0004c0007 0/0 720 4 0 4 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0005c0008 0/0 720 2 0 1 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0006c0012 0/0 720 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0007c0010 0/0 720 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0008c0013 0/0 720 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 1878 17 8 3 5 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0002 0/1 1878 33 1 7 15 4 5 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0003 1/0 1878 39 11 14 1 4 8 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0004 0/0 1878 13 1 0 10 0 2 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0005 0/0 1878 11 9 0 0 1 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0006 0/0 1878 11 10 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0007 0/0 1878 9 8 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0008 0/0 1878 5 4 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0009 0/0 1878 3 3 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0010 0/0 1878 3 1 0 0 1 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0011 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0012 0/0 1902 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0013 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0016 0/0 1851 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0020 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0021 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0001t0023 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0004t0001 0/0 1878 6 2 1 3 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0004t0002 0/0 1878 20 1 0 18 1 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0004t0003 0/0 1878 15 0 0 15 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0004t0004 0/0 1878 18 2 0 15 1 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0004t0006 0/0 1878 5 5 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0006t0001 0/0 1878 2 2 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0006t0005 0/0 1878 3 3 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0009t0005 0/0 1878 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0001c0011t0003 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0002t0001 0/0 1878 65 5 20 23 4 13 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0002t0005 0/0 1878 4 2 1 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0002t0015 0/0 1878 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0002t0017 0/0 1878 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0002t0022 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0003t0001 0/0 1878 66 4 7 53 0 2 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0003t0014 0/0 1878 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0003t0018 0/0 1878 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0002c0003t0019 0/0 1878 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0003c0005t0001 0/0 1878 4 0 0 1 0 3 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0003c0005t0002 0/0 1878 3 1 0 1 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0003c0005t0006 0/0 1878 2 2 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0003c0005t0011 0/0 1878 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0004c0007t0001 0/0 1878 4 0 4 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0005c0008t0001 0/0 1878 2 0 1 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0006c0012t0001 0/0 1878 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0007c0010t0001 0/0 1878 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776
a0008c0013t0001 0/0 1878 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 copy fasta chr2 232628604 232687776

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0012 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0019 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0024 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0033 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0036 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0048 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0049 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0052 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0077 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0172 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0194 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0265 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0308 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0315 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0001g0356 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0013 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0118 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0119 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0142 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0153 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0178 0/1 1 0 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0179 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0181 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0200 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0204 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0219 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0222 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0246 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0252 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0253 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0258 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0321 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0322 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0323 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0324 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0325 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0326 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0332 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0333 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0334 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0339 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0341 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0343 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0347 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0349 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0355 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0367 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0002g0368 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0007 0/0 2 0 2 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0008 0/0 2 0 0 0 0 2 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0014 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0032 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0037 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0056 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0117 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0166 1/0 1 0 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0228 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0231 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0234 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0235 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0236 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0237 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0238 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0239 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0240 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0241 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0242 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0243 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0244 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0245 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0247 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0248 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0249 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0250 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0251 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0256 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0266 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0268 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0270 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0275 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0307 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0335 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0336 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0357 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0003g0360 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0031 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0158 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0176 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0177 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0319 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0320 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0329 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0338 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0344 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0352 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0353 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0354 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0004g0359 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0010 0/0 2 2 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0264 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0281 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0282 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0286 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0293 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0297 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0300 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0303 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0005g0364 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0025 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0026 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0030 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0035 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0079 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0097 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0098 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0269 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0277 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0278 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0006g0361 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0007g0002 0/0 3 3 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0007g0290 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0007g0291 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0007g0295 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0007g0296 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0007g0304 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0007g0305 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0008g0283 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0008g0285 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0008g0287 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0008g0289 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0008g0294 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0009g0271 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0009g0273 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0009g0274 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0010g0298 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0010g0301 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0010g0306 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0011g0038 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0012g0351 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0013g0039 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0016g0216 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0020g0276 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0021g0272 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0001t0023g0309 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0001g0057 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0001g0156 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0001g0167 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0001g0182 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0001g0221 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0001g0223 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0016 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0062 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0078 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0095 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0113 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0114 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0127 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0128 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0130 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0131 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0134 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0136 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0138 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0139 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0140 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0141 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0149 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0161 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0225 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0002g0262 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0061 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0063 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0071 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0082 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0083 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0094 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0111 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0183 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0184 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0185 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0186 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0187 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0188 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0190 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0003g0224 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0064 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0065 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0081 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0103 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0104 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0105 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0135 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0143 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0144 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0152 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0163 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0164 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0168 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0169 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0171 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0207 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0208 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0004g0230 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0006g0009 0/0 2 2 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0006g0041 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0006g0042 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0004t0006g0191 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0006t0001g0034 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0006t0001g0267 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0006t0005g0288 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0006t0005g0365 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0006t0005g0366 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0009t0005g0299 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0001c0011t0003g0043 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0001 0/0 4 1 2 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0011 0/0 2 0 0 2 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0040 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0044 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0045 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0046 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0047 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0053 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0054 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0055 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0102 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0106 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0132 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0147 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0148 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0155 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0173 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0174 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0175 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0180 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0192 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0195 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0197 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0198 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0199 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0201 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0202 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0203 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0205 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0206 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0213 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0214 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0215 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0226 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0227 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0229 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0232 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0233 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0254 0/0 1 0 0 0 1 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0255 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0257 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0279 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0280 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0310 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0312 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0314 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0316 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0317 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0318 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0327 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0328 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0330 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0331 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0337 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0340 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0342 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0345 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0348 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0350 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0358 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0001g0363 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0005g0284 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0005g0292 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0005g0302 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0005g0362 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0015g0313 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0017g0311 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0002t0022g0263 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0003 0/0 2 0 0 2 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0004 0/0 2 0 0 2 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0005 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0059 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0066 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0067 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0068 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0069 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0070 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0072 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0073 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0074 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0075 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0076 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0080 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0084 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0085 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0086 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0087 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0088 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0089 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0090 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0091 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0092 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0093 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0096 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0099 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0101 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0107 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0108 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0109 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0110 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0112 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0115 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0120 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0121 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0122 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0123 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0124 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0125 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0126 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0133 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0137 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0145 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0146 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0150 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0151 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0154 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0157 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0159 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0160 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0162 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0165 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0170 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0189 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0193 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0196 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0209 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0210 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0211 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0212 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0220 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0260 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0001g0261 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0014g0116 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0018g0005 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0002c0003t0019g0129 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0001g0017 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0001g0021 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0001g0028 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0001g0029 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0002g0015 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0002g0018 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0002g0060 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0006g0058 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0006g0259 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0003c0005t0011g0023 0/0 1 1 0 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0004c0007t0001g0006 0/0 2 0 2 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0004c0007t0001g0217 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0004c0007t0001g0218 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0005c0008t0001g0020 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0005c0008t0001g0022 0/0 1 0 1 0 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0006c0012t0001g0100 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0007c0010t0001g0346 0/0 1 0 0 1 0 0 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
a0008c0013t0001g0027 0/0 1 0 0 0 0 1 EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0002 c0002 t0001 g0229 EUR GBR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00099 hp2 a0001 c0001 t0003 g0014 EUR GBR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00140 hp1 a0002 c0002 t0001 g0254 EUR GBR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00140 hp2 a0001 c0004 t0002 g0136 EUR GBR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00280 hp1 a0001 c0001 t0010 g0306 EUR FIN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00280 hp2 a0002 c0002 t0001 g0175 EUR FIN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00323 hp1 a0001 c0004 t0004 g0171 EUR FIN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00323 hp2 a0002 c0002 t0001 g0199 EUR FIN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00408 hp1 a0002 c0003 t0001 g0165 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00408 hp2 a0001 c0004 t0004 g0104 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00423 hp1 a0001 c0001 t0002 g0355 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00423 hp2 a0002 c0002 t0001 g0011 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00438 hp1 a0002 c0002 t0001 g0348 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00438 hp2 a0002 c0003 t0001 g0074 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00544 hp1 a0002 c0002 t0001 g0314 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00544 hp2 a0001 c0001 t0001 g0049 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00558 hp1 a0001 c0004 t0002 g0134 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00558 hp2 a0002 c0003 t0001 g0092 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00597 hp1 a0001 c0001 t0004 g0158 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00597 hp2 a0002 c0003 t0001 g0084 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00609 hp1 a0001 c0004 t0001 g0223 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00609 hp2 a0001 c0001 t0003 g0245 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00621 hp1 a0001 c0004 t0002 g0128 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00621 hp2 a0001 c0001 t0002 g0343 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00642 hp1 a0002 c0002 t0005 g0302 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00642 hp2 a0002 c0003 t0001 g0261 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00673 hp1 a0002 c0002 t0001 g0363 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00673 hp2 a0002 c0003 t0001 g0080 EAS CHS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00733 hp1 a0001 c0001 t0002 g0142 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00733 hp2 a0004 c0007 t0001 g0217 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00735 hp1 a0004 c0007 t0001 g0006 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00735 hp2 a0002 c0002 t0001 g0233 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00738 hp1 a0001 c0001 t0003 g0242 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00738 hp2 a0001 c0001 t0003 g0240 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00741 hp1 a0002 c0002 t0001 g0147 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG00741 hp2 a0002 c0002 t0001 g0106 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01070 hp1 a0001 c0001 t0003 g0236 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01070 hp2 a0001 c0001 t0003 g0234 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01074 hp1 a0002 c0002 t0001 g0192 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01074 hp2 a0004 c0007 t0001 g0006 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01081 hp1 a0001 c0001 t0003 g0248 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01081 hp2 a0002 c0002 t0001 g0001 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01099 hp1 a0001 c0004 t0001 g0057 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01099 hp2 a0004 c0007 t0001 g0218 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01106 hp1 a0001 c0001 t0002 g0181 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01106 hp2 a0001 c0001 t0001 g0012 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01109 hp1 a0002 c0002 t0001 g0232 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01109 hp2 a0001 c0001 t0006 g0035 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01167 hp1 a0002 c0002 t0001 g0053 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01167 hp2 a0002 c0002 t0001 g0001 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01175 hp1 a0001 c0001 t0002 g0153 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01175 hp2 a0001 c0001 t0007 g0304 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01243 hp1 a0001 c0001 t0008 g0283 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01243 hp2 a0002 c0003 t0001 g0110 AMR PUR EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01255 hp1 a0002 c0003 t0001 g0260 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01255 hp2 a0001 c0001 t0002 g0252 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01256 hp1 a0002 c0002 t0001 g0328 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01256 hp2 a0001 c0001 t0003 g0007 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01258 hp1 a0001 c0001 t0003 g0256 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01258 hp2 a0001 c0001 t0003 g0007 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01261 hp1 a0001 c0001 t0003 g0251 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01261 hp2 a0002 c0002 t0001 g0174 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01346 hp1 a0001 c0001 t0001 g0077 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01346 hp2 a0002 c0003 t0001 g0066 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01361 hp1 a0001 c0001 t0003 g0247 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01361 hp2 a0001 c0001 t0003 g0336 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01433 hp1 a0001 c0001 t0002 g0119 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01433 hp2 a0005 c0008 t0001 g0022 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01496 hp1 a0002 c0003 t0001 g0107 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01496 hp2 a0001 c0001 t0002 g0367 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01516 hp1 a0001 c0001 t0002 g0258 EUR IBS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01516 hp2 a0001 c0001 t0003 g0238 EUR IBS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01517 hp1 a0001 c0001 t0003 g0241 EUR IBS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01517 hp2 a0001 c0001 t0002 g0253 EUR IBS EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01884 hp1 a0002 c0002 t0005 g0292 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01884 hp2 a0001 c0001 t0003 g0237 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01891 hp1 a0001 c0001 t0008 g0289 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01891 hp2 a0001 c0001 t0005 g0364 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01934 hp1 a0002 c0002 t0001 g0337 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01934 hp2 a0002 c0002 t0001 g0054 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01952 hp1 a0002 c0002 t0001 g0330 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01952 hp2 a0001 c0001 t0002 g0368 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01975 hp1 a0002 c0002 t0017 g0311 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01975 hp2 a0002 c0002 t0001 g0345 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01981 hp1 a0002 c0002 t0001 g0342 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01981 hp2 a0002 c0002 t0001 g0340 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01993 hp1 a0002 c0003 t0001 g0109 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01993 hp2 a0001 c0001 t0003 g0056 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02027 hp1 a0001 c0004 t0003 g0063 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02027 hp2 a0002 c0002 t0001 g0317 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02040 hp1 a0001 c0004 t0002 g0113 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02040 hp2 a0001 c0004 t0002 g0114 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02055 hp1 a0001 c0001 t0001 g0033 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02055 hp2 a0001 c0001 t0002 g0246 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02056 hp1 a0001 c0001 t0004 g0344 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02056 hp2 a0002 c0002 t0001 g0206 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02071 hp1 a0002 c0002 t0001 g0331 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02071 hp2 a0001 c0004 t0002 g0140 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02074 hp1 a0002 c0003 t0001 g0115 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02074 hp2 a0001 c0001 t0002 g0347 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02083 hp1 a0002 c0003 t0018 g0005 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02083 hp2 a0001 c0001 t0001 g0315 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02129 hp1 a0001 c0001 t0004 g0329 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02129 hp2 a0003 c0005 t0002 g0018 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02132 hp1 a0001 c0004 t0002 g0138 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02132 hp2 a0002 c0002 t0005 g0362 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02135 hp1 a0002 c0003 t0001 g0209 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02135 hp2 a0001 c0004 t0003 g0082 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02145 hp1 a0001 c0001 t0003 g0357 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02145 hp2 a0001 c0001 t0003 g0037 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02148 hp1 a0002 c0002 t0001 g0226 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02148 hp2 a0001 c0001 t0003 g0360 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02155 hp1 a0001 c0004 t0003 g0094 EAS CDX EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02155 hp2 a0002 c0003 t0001 g0069 EAS CDX EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02257 hp1 a0001 c0001 t0007 g0290 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02257 hp2 a0001 c0001 t0008 g0287 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02258 hp1 a0002 c0003 t0001 g0126 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02258 hp2 a0003 c0005 t0006 g0058 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02280 hp1 a0001 c0001 t0006 g0026 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02280 hp2 a0001 c0001 t0007 g0002 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02293 hp1 a0001 c0001 t0003 g0335 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02293 hp2 a0001 c0001 t0001 g0052 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02300 hp1 a0002 c0002 t0001 g0047 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02300 hp2 a0002 c0002 t0001 g0055 AMR PEL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02451 hp1 a0001 c0001 t0003 g0235 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02451 hp2 a0001 c0001 t0005 g0286 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02523 hp1 a0001 c0001 t0004 g0359 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02523 hp2 a0001 c0004 t0004 g0105 EAS KHV EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02572 hp1 a0001 c0001 t0007 g0296 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02572 hp2 a0001 c0001 t0001 g0308 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02602 hp1 a0002 c0002 t0001 g0255 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02602 hp2 a0001 c0001 t0003 g0239 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02615 hp1 a0001 c0001 t0004 g0031 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02615 hp2 a0001 c0001 t0005 g0293 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02622 hp1 a0001 c0001 t0009 g0271 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02622 hp2 a0001 c0001 t0006 g0098 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02630 hp1 a0001 c0001 t0021 g0272 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02630 hp2 a0002 c0002 t0001 g0279 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02647 hp1 a0002 c0002 t0001 g0215 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02647 hp2 a0001 c0001 t0006 g0361 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02683 hp1 a0005 c0008 t0001 g0020 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02683 hp2 a0003 c0005 t0001 g0028 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02698 hp1 a0002 c0002 t0001 g0213 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02698 hp2 a0001 c0001 t0004 g0176 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02723 hp1 a0003 c0005 t0011 g0023 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02723 hp2 a0001 c0001 t0007 g0291 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02735 hp1 a0001 c0001 t0010 g0301 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02735 hp2 a0002 c0002 t0001 g0198 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02738 hp1 a0002 c0003 t0001 g0067 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02738 hp2 a0001 c0001 t0003 g0231 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02809 hp1 a0001 c0001 t0007 g0002 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02809 hp2 a0002 c0002 t0005 g0284 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02818 hp1 a0001 c0004 t0006 g0191 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02818 hp2 a0001 c0001 t0006 g0269 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02886 hp1 a0001 c0001 t0023 g0309 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02886 hp2 a0001 c0001 t0006 g0025 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02895 hp1 a0001 c0001 t0007 g0305 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02895 hp2 a0001 c0001 t0006 g0278 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02896 hp1 a0001 c0001 t0003 g0275 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02896 hp2 a0002 c0002 t0001 g0280 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02897 hp1 a0001 c0001 t0003 g0270 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02897 hp2 a0001 c0001 t0006 g0277 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02922 hp1 a0001 c0001 t0006 g0030 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02922 hp2 a0001 c0001 t0006 g0097 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02965 hp1 a0001 c0006 t0001 g0267 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02965 hp2 a0001 c0004 t0001 g0156 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02976 hp1 a0001 c0001 t0003 g0268 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02976 hp2 a0001 c0001 t0003 g0307 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03041 hp1 a0001 c0001 t0001 g0172 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03041 hp2 a0001 c0004 t0004 g0163 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03098 hp1 a0001 c0001 t0020 g0276 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03098 hp2 a0001 c0004 t0002 g0262 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03130 hp1 a0001 c0001 t0008 g0294 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03130 hp2 a0001 c0006 t0005 g0365 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03139 hp1 a0003 c0005 t0002 g0015 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03139 hp2 a0002 c0003 t0001 g0120 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03195 hp1 a0001 c0001 t0013 g0039 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03195 hp2 a0001 c0006 t0001 g0034 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03209 hp1 a0001 c0001 t0003 g0266 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03209 hp2 a0001 c0001 t0010 g0298 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03225 hp1 a0001 c0001 t0003 g0228 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03225 hp2 a0001 c0004 t0006 g0009 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03239 hp1 a0001 c0001 t0005 g0300 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03239 hp2 a0001 c0001 t0003 g0243 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03453 hp1 a0001 c0001 t0005 g0282 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03453 hp2 a0001 c0001 t0007 g0295 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03486 hp1 a0001 c0001 t0009 g0274 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03486 hp2 a0001 c0001 t0007 g0002 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03490 hp1 a0003 c0005 t0001 g0021 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03490 hp2 a0001 c0001 t0003 g0008 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03492 hp1 a0002 c0002 t0001 g0201 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03492 hp2 a0001 c0001 t0003 g0008 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03516 hp1 a0001 c0001 t0011 g0038 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03516 hp2 a0001 c0004 t0001 g0182 AFR ESN EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03540 hp1 a0001 c0001 t0001 g0265 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03540 hp2 a0003 c0005 t0006 g0259 AFR GWD EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03579 hp1 a0001 c0001 t0005 g0281 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03579 hp2 a0001 c0001 t0001 g0356 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03654 hp1 a0003 c0005 t0002 g0060 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03654 hp2 a0001 c0001 t0004 g0177 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03669 hp1 a0002 c0002 t0001 g0257 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03669 hp2 a0001 c0009 t0005 g0299 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03688 hp1 a0001 c0001 t0002 g0321 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03688 hp2 a0001 c0001 t0002 g0013 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03704 hp1 a0002 c0002 t0001 g0132 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03704 hp2 a0002 c0003 t0019 g0129 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03710 hp1 a0001 c0001 t0003 g0117 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03710 hp2 a0002 c0002 t0001 g0001 SAS PJL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03831 hp1 a0003 c0005 t0001 g0029 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03831 hp2 a0002 c0003 t0014 g0116 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03834 hp1 a0002 c0002 t0001 g0040 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03834 hp2 a0002 c0002 t0001 g0173 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03942 hp1 a0001 c0001 t0001 g0194 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03942 hp2 a0001 c0001 t0002 g0219 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04184 hp1 a0001 c0001 t0002 g0222 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04184 hp2 a0002 c0002 t0001 g0205 SAS BEB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04199 hp1 a0001 c0001 t0002 g0204 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04199 hp2 a0002 c0003 t0001 g0146 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04204 hp1 a0002 c0002 t0001 g0197 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04204 hp2 a0002 c0002 t0001 g0148 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04228 hp1 a0001 c0001 t0003 g0250 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG04228 hp2 a0002 c0002 t0001 g0195 SAS STU EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18522 hp1 a0002 c0002 t0022 g0263 AFR YRI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18522 hp2 a0001 c0001 t0001 g0036 AFR YRI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18747 hp1 a0002 c0003 t0001 g0072 EAS CHB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18747 hp2 a0001 c0004 t0004 g0230 EAS CHB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18906 hp1 a0001 c0004 t0004 g0164 AFR YRI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18906 hp2 a0001 c0004 t0006 g0042 AFR YRI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18939 hp1 a0002 c0003 t0001 g0151 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18939 hp2 a0001 c0004 t0003 g0083 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18941 hp1 a0006 c0012 t0001 g0100 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18941 hp2 a0002 c0003 t0001 g0112 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18942 hp1 a0002 c0002 t0001 g0202 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18942 hp2 a0001 c0004 t0004 g0169 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18944 hp1 a0001 c0004 t0003 g0186 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18944 hp2 a0002 c0003 t0001 g0093 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18945 hp1 a0001 c0001 t0002 g0341 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18945 hp2 a0001 c0004 t0003 g0185 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18946 hp1 a0001 c0004 t0003 g0187 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18946 hp2 a0002 c0002 t0001 g0011 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18947 hp1 a0001 c0001 t0004 g0338 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18947 hp2 a0002 c0003 t0001 g0124 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18948 hp1 a0001 c0001 t0002 g0325 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18948 hp2 a0002 c0002 t0001 g0310 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18950 hp1 a0001 c0004 t0004 g0152 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18950 hp2 a0002 c0003 t0001 g0085 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18951 hp1 a0001 c0004 t0004 g0081 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18951 hp2 a0001 c0001 t0001 g0048 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18952 hp1 a0002 c0002 t0001 g0312 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18952 hp2 a0002 c0003 t0001 g0089 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18954 hp1 a0001 c0001 t0002 g0332 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18954 hp2 a0002 c0002 t0001 g0044 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18957 hp1 a0007 c0010 t0001 g0346 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18957 hp2 a0001 c0001 t0002 g0324 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18959 hp1 a0001 c0004 t0003 g0224 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18959 hp2 a0002 c0003 t0001 g0088 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18960 hp1 a0001 c0004 t0003 g0183 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18960 hp2 a0001 c0001 t0002 g0339 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18962 hp1 a0002 c0003 t0001 g0193 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18962 hp2 a0001 c0004 t0003 g0061 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18966 hp1 a0002 c0002 t0001 g0045 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18966 hp2 a0002 c0003 t0001 g0157 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18967 hp1 a0001 c0004 t0002 g0141 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18967 hp2 a0002 c0002 t0001 g0046 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18969 hp1 a0002 c0003 t0001 g0003 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18969 hp2 a0001 c0004 t0004 g0207 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18970 hp1 a0001 c0004 t0002 g0139 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18970 hp2 a0002 c0003 t0001 g0212 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18971 hp1 a0002 c0003 t0001 g0150 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18971 hp2 a0001 c0004 t0004 g0208 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18972 hp1 a0001 c0004 t0002 g0149 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18972 hp2 a0001 c0004 t0004 g0064 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18973 hp1 a0001 c0004 t0002 g0131 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18973 hp2 a0002 c0003 t0001 g0086 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18975 hp1 a0002 c0003 t0001 g0068 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18975 hp2 a0002 c0003 t0001 g0125 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18979 hp1 a0001 c0004 t0003 g0190 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18979 hp2 a0001 c0004 t0002 g0225 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18980 hp1 a0002 c0003 t0001 g0101 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18980 hp2 a0002 c0003 t0001 g0005 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18981 hp1 a0001 c0001 t0004 g0352 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18981 hp2 a0001 c0004 t0001 g0221 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18983 hp1 a0001 c0004 t0002 g0062 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18983 hp2 a0002 c0003 t0001 g0122 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18986 hp1 a0002 c0003 t0001 g0090 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18986 hp2 a0002 c0003 t0001 g0137 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18988 hp1 a0001 c0001 t0002 g0200 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18988 hp2 a0002 c0002 t0001 g0102 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18989 hp1 a0001 c0004 t0004 g0144 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18989 hp2 a0003 c0005 t0001 g0017 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18990 hp1 a0001 c0004 t0002 g0078 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18990 hp2 a0001 c0004 t0002 g0095 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18994 hp1 a0001 c0004 t0002 g0127 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18994 hp2 a0002 c0002 t0001 g0358 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18995 hp1 a0001 c0004 t0003 g0071 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18995 hp2 a0001 c0001 t0002 g0333 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18997 hp1 a0001 c0001 t0001 g0051 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18997 hp2 a0002 c0003 t0001 g0075 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18998 hp1 a0001 c0004 t0001 g0167 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18998 hp2 a0001 c0004 t0004 g0135 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18999 hp1 a0001 c0001 t0001 g0050 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA18999 hp2 a0002 c0003 t0001 g0087 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19000 hp1 a0002 c0003 t0001 g0159 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19000 hp2 a0002 c0003 t0001 g0076 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19003 hp1 a0002 c0003 t0001 g0004 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19003 hp2 a0002 c0002 t0001 g0350 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19004 hp1 a0002 c0003 t0001 g0210 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19004 hp2 a0001 c0004 t0003 g0184 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19009 hp1 a0001 c0004 t0002 g0130 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19009 hp2 a0002 c0003 t0001 g0004 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19010 hp1 a0002 c0003 t0001 g0123 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19010 hp2 a0002 c0002 t0001 g0316 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19011 hp1 a0002 c0003 t0001 g0160 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19011 hp2 a0002 c0003 t0001 g0145 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19012 hp1 a0001 c0004 t0004 g0143 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19012 hp2 a0001 c0001 t0002 g0322 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19030 hp1 a0001 c0001 t0003 g0032 AFR LWK EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19030 hp2 a0001 c0004 t0006 g0041 AFR LWK EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19043 hp1 a0001 c0006 t0005 g0366 AFR LWK EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19043 hp2 a0002 c0003 t0001 g0220 AFR LWK EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19055 hp1 a0001 c0004 t0002 g0016 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19055 hp2 a0002 c0003 t0001 g0196 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19056 hp1 a0001 c0001 t0012 g0351 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19056 hp2 a0002 c0002 t0001 g0327 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19060 hp1 a0001 c0004 t0004 g0065 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19060 hp2 a0001 c0001 t0004 g0354 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19062 hp1 a0002 c0002 t0015 g0313 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19062 hp2 a0001 c0001 t0002 g0326 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19064 hp1 a0002 c0003 t0001 g0154 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19064 hp2 a0002 c0002 t0001 g0155 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19065 hp1 a0001 c0004 t0004 g0168 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19065 hp2 a0002 c0003 t0001 g0003 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19068 hp1 a0002 c0003 t0001 g0073 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19068 hp2 a0002 c0003 t0001 g0211 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19074 hp1 a0002 c0003 t0001 g0133 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19074 hp2 a0001 c0001 t0002 g0334 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19077 hp1 a0002 c0003 t0001 g0070 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19077 hp2 a0001 c0004 t0004 g0103 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19081 hp1 a0001 c0004 t0003 g0188 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19081 hp2 a0001 c0001 t0002 g0349 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19083 hp1 a0002 c0003 t0001 g0059 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19083 hp2 a0001 c0001 t0004 g0320 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19084 hp1 a0002 c0003 t0001 g0096 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19084 hp2 a0002 c0003 t0001 g0189 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19085 hp1 a0002 c0002 t0001 g0318 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19085 hp2 a0001 c0001 t0004 g0319 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19086 hp1 a0001 c0004 t0002 g0161 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19086 hp2 a0002 c0002 t0001 g0203 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19087 hp1 a0002 c0003 t0001 g0162 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19087 hp2 a0001 c0001 t0004 g0353 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19088 hp1 a0001 c0001 t0002 g0323 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19088 hp2 a0002 c0002 t0001 g0214 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19089 hp1 a0001 c0004 t0003 g0111 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19089 hp2 a0002 c0003 t0001 g0099 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19091 hp1 a0002 c0003 t0001 g0121 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19091 hp2 a0002 c0003 t0001 g0091 EAS JPT EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19240 hp1 a0001 c0001 t0005 g0010 AFR YRI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA19240 hp2 a0001 c0006 t0005 g0288 AFR YRI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20129 hp1 a0001 c0001 t0008 g0285 AFR ASW EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20129 hp2 a0001 c0001 t0005 g0264 AFR ASW EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20752 hp1 a0001 c0001 t0003 g0249 EUR TSI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20752 hp2 a0001 c0001 t0002 g0179 EUR TSI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20805 hp1 a0001 c0001 t0005 g0303 EUR TSI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20805 hp2 a0001 c0001 t0002 g0118 EUR TSI EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20905 hp1 a0008 c0013 t0001 g0027 SAS GIH EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20905 hp2 a0001 c0001 t0003 g0244 SAS GIH EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01123 hp1 a0002 c0003 t0001 g0108 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG01123 hp2 a0002 c0002 t0001 g0227 AMR CLM EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02109 hp1 a0001 c0001 t0016 g0216 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02109 hp2 a0001 c0001 t0009 g0273 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02559 hp1 a0002 c0002 t0001 g0180 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG02559 hp2 a0001 c0001 t0005 g0297 AFR ACB EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03471 hp1 a0001 c0001 t0005 g0010 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG03471 hp2 a0001 c0001 t0006 g0079 AFR MSL EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG06807 hp1 a0002 c0002 t0001 g0001 AFR USA EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
HG06807 hp2 a0001 c0001 t0001 g0024 AFR USA EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20300 hp1 a0001 c0004 t0006 g0009 AFR USA EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA20300 hp2 a0001 c0001 t0001 g0019 AFR USA EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA21309 hp1 a0001 c0011 t0003 g0043 AFR LWK EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
NA21309 hp2 a0002 c0003 t0001 g0170 AFR LWK EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
homoSapiens_chm13v2 hp1 a0001 c0001 t0002 g0178 REF REF EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776
homoSapiens_grch38 hp1 a0001 c0001 t0003 g0166 REF REF EFHD1_chr2_232628604_232687776 EFHD1 chr2 232628604 232687776

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:232633721 T
T
 G
G
 1 a0004
a0004
 4 HG00733.hp2
HG00735.hp1
HG01074.hp2
others(1): Show 
HG00733.hp2
HG00735.hp1
HG01074.hp2
HG01099.hp2
 missense_variant MODERATE c.17T>G
c.17T>G
 p.Leu6Arg
p.Leu6Arg
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 118/1878 17/720 6/239 chr2 232633721
chr2:232633796 C
C
 T
T
 3 a0003
a0005
a0008
a0003
a0005
a0008
 13 HG01433.hp2
HG02129.hp2
HG02258.hp2
others(10): Show 
HG01433.hp2
HG02129.hp2
HG02258.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG03139.hp1
HG03490.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp1
NA18989.hp2
NA20905.hp1
 missense_variant MODERATE c.92C>T
c.92C>T
 p.Ala31Val
p.Ala31Val
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 193/1878 92/720 31/239 chr2 232633796
chr2:232662866 G
G
 A
A
 1 a0008
a0008
 1 NA20905.hp1
NA20905.hp1
 missense_variant MODERATE c.367G>A
c.367G>A
 p.Gly123Arg
p.Gly123Arg
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/4 468/1878 367/720 123/239 chr2 232662866
chr2:232662887 G
G
 A
A
 1 a0007
a0007
 1 NA18957.hp1
NA18957.hp1
 missense_variant MODERATE c.388G>A
c.388G>A
 p.Gly130Ser
p.Gly130Ser
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/4 489/1878 388/720 130/239 chr2 232662887
chr2:232672415 A
A
 G
G
 5 a0002
a0004
a0005
others(2): Show 
a0002
a0004
a0005
a0006
a0007
 149 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(146): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG03139.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 missense_variant MODERATE c.557A>G
c.557A>G
 p.Lys186Arg
p.Lys186Arg
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/4 658/1878 557/720 186/239 chr2 232672415
chr2:232681702 G
G
 A
A
 1 a0006
a0006
 1 NA18941.hp1
NA18941.hp1
 missense_variant MODERATE c.703G>A
c.703G>A
 p.Ala235Thr
p.Ala235Thr
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 804/1878 703/720 235/239 chr2 232681702

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:232633725 G
G
 A
A
 1 a0001c0009
a0001c0009
 1 HG03669.hp2
HG03669.hp2
 synonymous_variant LOW c.21G>A
c.21G>A
 p.Ala7Ala
p.Ala7Ala
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 122/1878 21/720 7/239 chr2 232633725
chr2:232633959 G
G
 T
T
 5 a0001c0004
a0001c0011
a0002c0003
others(2): Show 
a0001c0004
a0001c0011
a0002c0003
a0004c0007
a0006c0012
 139 HG00140.hp2
HG00323.hp1
HG00408.hp1
others(136): Show 
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01496.hp1
HG01993.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02523.hp2
HG02738.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03516.hp2
HG03704.hp2
HG03831.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp2
NA18967.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19060.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.255G>T
c.255G>T
 p.Pro85Pro
p.Pro85Pro
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 356/1878 255/720 85/239 chr2 232633959
chr2:232662898 C
C
 T
T
 1 a0001c0006
a0001c0006
 5 HG02965.hp1
HG03130.hp2
HG03195.hp2
others(2): Show 
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 synonymous_variant LOW c.399C>T
c.399C>T
 p.Ser133Ser
p.Ser133Ser
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/4 500/1878 399/720 133/239 chr2 232662898
chr2:232672335 G
G
 A
A
 1 a0001c0011
a0001c0011
 1 NA21309.hp1
NA21309.hp1
 synonymous_variant LOW c.477G>A
c.477G>A
 p.Ala159Ala
p.Ala159Ala
 EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/4 578/1878 477/720 159/239 chr2 232672335

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:232633608 T
T
 A
A
 1 a0001c0001t0012
a0001c0001t0012
 1 NA19056.hp1
NA19056.hp1
 5_prime_UTR_variant MODIFIER c.-97T>A
c.-97T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 97 chr2 232633608
chr2:232633611 T
T
 C
C
 1 a0001c0001t0012
a0001c0001t0012
 1 NA19056.hp1
NA19056.hp1
 5_prime_UTR_variant MODIFIER c.-94T>C
c.-94T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 94 chr2 232633611
chr2:232633641 C
C
 CGCCCGCG
others(17): Show 
CGCCCGCGAGTTTGTAGAGCCTCGA
 1 a0001c0001t0012
a0001c0001t0012
 1 NA19056.hp1
NA19056.hp1
 5_prime_UTR_variant MODIFIER c.-58_-57insGAGTTTGT
others(16): Show 
c.-58_-57insGAGTTTGTAGAGCCTCGAGCCCGC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 57 INFO_REALIGN_3_PRIME chr2 232633641
chr2:232633682 C
C
 T
T
 1 a0001c0001t0023
a0001c0001t0023
 1 HG02886.hp1
HG02886.hp1
 5_prime_UTR_variant MODIFIER c.-23C>T
c.-23C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 23 chr2 232633682
chr2:232633689 C
C
 T
T
 7 a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
others(4): Show 
a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0006t0005
a0001c0009t0005
a0002c0002t0005
 36 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(33): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02132.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03669.hp2
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
 5_prime_UTR_variant MODIFIER c.-16C>T
c.-16C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 16 chr2 232633689
chr2:232633690 C
C
 T
T
 4 a0001c0001t0009
a0001c0001t0020
a0001c0001t0021
others(1): Show 
a0001c0001t0009
a0001c0001t0020
a0001c0001t0021
a0002c0002t0022
 6 HG02109.hp2
HG02622.hp1
HG02630.hp1
others(3): Show 
HG02109.hp2
HG02622.hp1
HG02630.hp1
HG03098.hp1
HG03486.hp1
NA18522.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-15C>T
c.-15C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/4 chr2 232633690
chr2:232681854 G
G
 A
A
 7 a0001c0001t0004
a0001c0001t0011
a0001c0001t0012
others(4): Show 
a0001c0001t0004
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0020
a0001c0004t0004
a0003c0005t0011
 36 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(33): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02615.hp1
HG02698.hp2
HG02723.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03516.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 3_prime_UTR_variant MODIFIER c.*135G>A
c.*135G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 135 chr2 232681854
chr2:232681870 C
C
 T
T
 4 a0001c0001t0004
a0001c0001t0012
a0001c0001t0020
others(1): Show 
a0001c0001t0004
a0001c0001t0012
a0001c0001t0020
a0001c0004t0004
 33 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(30): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02615.hp1
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 3_prime_UTR_variant MODIFIER c.*151C>T
c.*151C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 151 chr2 232681870
chr2:232682036 C
C
 A
A
 1 a0002c0003t0014
a0002c0003t0014
 1 HG03831.hp2
HG03831.hp2
 3_prime_UTR_variant MODIFIER c.*317C>A
c.*317C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 317 chr2 232682036
chr2:232682060 T
T
 C
C
 6 a0001c0001t0006
a0001c0001t0008
a0001c0001t0021
others(3): Show 
a0001c0001t0006
a0001c0001t0008
a0001c0001t0021
a0001c0001t0023
a0001c0004t0006
a0003c0005t0006
 25 HG01109.hp2
HG01243.hp1
HG01891.hp1
others(22): Show 
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp2
NA20129.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*341T>C
c.*341T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 341 chr2 232682060
chr2:232682149 C
C
 G
G
 1 a0002c0003t0019
a0002c0003t0019
 1 HG03704.hp2
HG03704.hp2
 3_prime_UTR_variant MODIFIER c.*430C>G
c.*430C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 430 chr2 232682149
chr2:232682275 T
T
 C
C
 39 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(36): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0020
a0001c0001t0021
a0001c0001t0023
a0001c0004t0001
a0001c0004t0002
a0001c0004t0004
a0001c0004t0006
a0001c0006t0001
a0001c0006t0005
a0001c0009t0005
a0002c0002t0001
a0002c0002t0005
a0002c0002t0015
a0002c0002t0017
a0002c0002t0022
a0002c0003t0001
a0002c0003t0014
a0002c0003t0018
a0002c0003t0019
a0003c0005t0001
a0003c0005t0002
a0003c0005t0006
a0003c0005t0011
a0004c0007t0001
a0005c0008t0001
a0006c0012t0001
a0007c0010t0001
a0008c0013t0001
 315 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(312): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*556T>C
c.*556T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 556 chr2 232682275
chr2:232682349 C
C
 A
A
 1 a0002c0002t0015
a0002c0002t0015
 1 NA19062.hp1
NA19062.hp1
 3_prime_UTR_variant MODIFIER c.*630C>A
c.*630C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 630 chr2 232682349
chr2:232682368 CTTGCTCC
others(20): Show 
CTTGCTCCGTCTATGTCTTCCCAGCTCA
 C
C
 1 a0001c0001t0016
a0001c0001t0016
 1 HG02109.hp1
HG02109.hp1
 3_prime_UTR_variant MODIFIER c.*650_*676delTTGCTC
others(21): Show 
c.*650_*676delTTGCTCCGTCTATGTCTTCCCAGCTCA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 650 chr2 232682368
chr2:232682418 C
C
 T
T
 2 a0001c0001t0011
a0003c0005t0011
a0001c0001t0011
a0003c0005t0011
 2 HG02723.hp1
HG03516.hp1
HG02723.hp1
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*699C>T
c.*699C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 699 chr2 232682418
chr2:232682518 C
C
 T
T
 2 a0001c0001t0016
a0002c0003t0018
a0001c0001t0016
a0002c0003t0018
 2 HG02083.hp1
HG02109.hp1
HG02083.hp1
HG02109.hp1
 3_prime_UTR_variant MODIFIER c.*799C>T
c.*799C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 799 chr2 232682518
chr2:232682656 C
C
 A
A
 4 a0001c0001t0002
a0001c0001t0010
a0001c0004t0002
others(1): Show 
a0001c0001t0002
a0001c0001t0010
a0001c0004t0002
a0003c0005t0002
 59 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(56): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp2
HG02132.hp1
HG02735.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA18973.hp1
NA18979.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18995.hp2
NA19009.hp1
NA19012.hp2
NA19055.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*937C>A
c.*937C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 937 chr2 232682656
chr2:232682698 T
T
 G
G
 1 a0002c0002t0017
a0002c0002t0017
 1 HG01975.hp1
HG01975.hp1
 3_prime_UTR_variant MODIFIER c.*979T>G
c.*979T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 979 chr2 232682698
chr2:232682710 C
C
 A
A
 1 a0001c0001t0016
a0001c0001t0016
 1 HG02109.hp1
HG02109.hp1
 3_prime_UTR_variant MODIFIER c.*991C>A
c.*991C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 4/4 991 chr2 232682710

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:232634080 G
G
 T
T
 108 a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
others(105): Show 
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0357
a0001c0001t0003g0360
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0011
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0007c0010t0001g0346
 112 HG00280.hp1
HG00423.hp1
HG00423.hp2
others(109): Show 
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG01175.hp2
HG01243.hp1
HG01256.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18981.hp1
NA18994.hp2
NA18995.hp2
NA19003.hp2
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.302+74G>T
c.302+74G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634080
chr2:232634121 C
C
 T
T
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.302+115C>T
c.302+115C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634121
chr2:232634132 A
A
 G
G
 2 a0001c0004t0002g0262
a0001c0004t0006g0009
a0001c0004t0002g0262
a0001c0004t0006g0009
 3 HG03098.hp2
HG03225.hp2
NA20300.hp1
HG03098.hp2
HG03225.hp2
NA20300.hp1
 intron_variant MODIFIER c.302+126A>G
c.302+126A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634132
chr2:232634171 G
G
 A
A
 1 a0001c0001t0005g0264
a0001c0001t0005g0264
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.302+165G>A
c.302+165G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634171
chr2:232634228 G
G
 T
T
 107 a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
others(104): Show 
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0357
a0001c0001t0003g0360
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0011
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0007c0010t0001g0346
 111 HG00280.hp1
HG00423.hp1
HG00423.hp2
others(108): Show 
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG01175.hp2
HG01243.hp1
HG01256.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18981.hp1
NA18994.hp2
NA18995.hp2
NA19003.hp2
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.302+222G>T
c.302+222G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634228
chr2:232634280 G
G
 C
C
 3 a0001c0001t0001g0012
a0001c0001t0002g0013
a0001c0001t0003g0014
a0001c0001t0001g0012
a0001c0001t0002g0013
a0001c0001t0003g0014
 3 HG00099.hp2
HG01106.hp2
HG03688.hp2
HG00099.hp2
HG01106.hp2
HG03688.hp2
 intron_variant MODIFIER c.302+274G>C
c.302+274G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634280
chr2:232634317 G
G
 T
T
 2 a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0001g0260
a0002c0003t0001g0261
 2 HG00642.hp2
HG01255.hp1
HG00642.hp2
HG01255.hp1
 intron_variant MODIFIER c.302+311G>T
c.302+311G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634317
chr2:232634374 G
G
 C
C
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.302+368G>C
c.302+368G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634374
chr2:232634391 C
C
 A
A
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.302+385C>A
c.302+385C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634391
chr2:232634434 C
C
 G
G
 1 a0003c0005t0006g0259
a0003c0005t0006g0259
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.302+428C>G
c.302+428C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634434
chr2:232634870 G
G
 A
A
 1 a0001c0004t0002g0016
a0001c0004t0002g0016
 1 NA19055.hp1
NA19055.hp1
 intron_variant MODIFIER c.302+864G>A
c.302+864G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232634870
chr2:232634994 G
G
 GGCGCTGC
others(13): Show 
GGCGCTGCGTCGCCTGAGCCT
 31 a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
others(28): Show 
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
 33 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(30): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG04228.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+989_302+1008du
others(21): Show 
c.302+989_302+1008dupGCGCTGCGTCGCCTGAGCCT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232634994
chr2:232635080 G
G
 A
A
 99 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(96): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0009t0005g0299
a0002c0002t0001g0040
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0011g0023
a0005c0008t0001g0020
a0005c0008t0001g0022
a0008c0013t0001g0027
 104 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(101): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03834.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18989.hp2
NA19030.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+1074G>A
c.302+1074G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635080
chr2:232635182 T
T
 A
A
 3 a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0011t0003g0043
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0011t0003g0043
 3 NA18906.hp2
NA19030.hp2
NA21309.hp1
NA18906.hp2
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.302+1176T>A
c.302+1176T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635182
chr2:232635385 G
G
 A
A
 3 a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0006t0001g0267
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0006t0001g0267
 3 HG02965.hp1
HG02976.hp1
HG03209.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp1
 intron_variant MODIFIER c.302+1379G>A
c.302+1379G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635385
chr2:232635515 G
G
 T
T
 2 a0001c0001t0003g0268
a0001c0006t0001g0267
a0001c0001t0003g0268
a0001c0006t0001g0267
 2 HG02965.hp1
HG02976.hp1
HG02965.hp1
HG02976.hp1
 intron_variant MODIFIER c.302+1509G>T
c.302+1509G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635515
chr2:232635527 C
C
 T
T
 1 a0001c0004t0004g0230
a0001c0004t0004g0230
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.302+1521C>T
c.302+1521C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635527
chr2:232635615 T
T
 G
G
 176 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(173): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0056
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0357
a0001c0001t0003g0360
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0002g0062
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0009t0005g0299
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0059
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0011g0023
a0005c0008t0001g0020
a0005c0008t0001g0022
a0007c0010t0001g0346
a0008c0013t0001g0027
 181 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(178): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp2
NA18981.hp1
NA18983.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18999.hp1
NA19003.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+1609T>G
c.302+1609T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635615
chr2:232635721 A
A
 G
G
 4 a0001c0001t0003g0256
a0002c0002t0001g0254
a0002c0002t0001g0255
others(1): Show 
a0001c0001t0003g0256
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
 4 HG00140.hp1
HG01258.hp1
HG02602.hp1
others(1): Show 
HG00140.hp1
HG01258.hp1
HG02602.hp1
HG03669.hp1
 intron_variant MODIFIER c.302+1715A>G
c.302+1715A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635721
chr2:232635824 GA
GA
 G
G
 30 a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
others(27): Show 
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0006t0005g0288
a0001c0009t0005g0299
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
 33 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(30): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02132.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03669.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.302+1829delA
c.302+1829delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232635824
chr2:232635957 C
C
 T
T
 1 a0002c0002t0001g0229
a0002c0002t0001g0229
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.302+1951C>T
c.302+1951C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635957
chr2:232635962 A
A
 C
C
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.302+1956A>C
c.302+1956A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635962
chr2:232635973 G
G
 A
A
 2 a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0066
a0002c0003t0001g0067
 2 HG01346.hp2
HG02738.hp1
HG01346.hp2
HG02738.hp1
 intron_variant MODIFIER c.302+1967G>A
c.302+1967G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232635973
chr2:232636456 G
G
 C
C
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.302+2450G>C
c.302+2450G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232636456
chr2:232636528 G
G
 A
A
 1 a0001c0001t0003g0307
a0001c0001t0003g0307
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.302+2522G>A
c.302+2522G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232636528
chr2:232636737 C
C
 T
T
 1 a0001c0001t0002g0253
a0001c0001t0002g0253
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.302+2731C>T
c.302+2731C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232636737
chr2:232636816 C
C
 T
T
 1 a0001c0001t0002g0252
a0001c0001t0002g0252
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.302+2810C>T
c.302+2810C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232636816
chr2:232636818 G
G
 A
A
 1 a0001c0001t0006g0269
a0001c0001t0006g0269
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.302+2812G>A
c.302+2812G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232636818
chr2:232636954 G
G
 T
T
 79 a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
others(76): Show 
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0357
a0001c0001t0003g0360
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0002g0062
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0006t0001g0267
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0059
a0003c0005t0002g0060
a0007c0010t0001g0346
 79 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(76): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00621.hp2
HG01256.hp1
HG01361.hp2
HG01496.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02148.hp2
HG02293.hp1
HG02523.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03209.hp1
HG03486.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18962.hp2
NA18972.hp2
NA18981.hp1
NA18983.hp1
NA18994.hp2
NA18995.hp2
NA19003.hp2
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
 intron_variant MODIFIER c.302+2948G>T
c.302+2948G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232636954
chr2:232637156 A
A
 G
G
 11 a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0003g0032
others(8): Show 
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0006t0001g0034
a0003c0005t0006g0058
 11 HG01109.hp2
HG02055.hp1
HG02145.hp2
others(8): Show 
HG01109.hp2
HG02055.hp1
HG02145.hp2
HG02258.hp2
HG02615.hp1
HG02922.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.302+3150A>G
c.302+3150A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637156
chr2:232637157 C
C
 T
T
 22 a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
others(19): Show 
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0004g0031
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0004t0001g0057
a0001c0006t0001g0034
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0011g0023
a0005c0008t0001g0022
a0008c0013t0001g0027
 22 HG01099.hp1
HG01109.hp2
HG01433.hp2
others(19): Show 
HG01099.hp1
HG01109.hp2
HG01433.hp2
HG02055.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02615.hp1
HG02683.hp2
HG02723.hp1
HG02886.hp2
HG02922.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03490.hp1
HG03516.hp1
HG03831.hp1
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA20905.hp1
 intron_variant MODIFIER c.302+3151C>T
c.302+3151C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637157
chr2:232637274 C
C
 T
T
 6 a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
others(3): Show 
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0002c0002t0001g0279
a0002c0002t0001g0280
 6 HG02630.hp2
HG02647.hp2
HG02818.hp2
others(3): Show 
HG02630.hp2
HG02647.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.302+3268C>T
c.302+3268C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637274
chr2:232637343 C
C
 CT
CT
 39 a0001c0001t0001g0356
a0001c0001t0002g0246
a0001c0001t0002g0252
others(36): Show 
a0001c0001t0001g0356
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0256
a0001c0001t0003g0357
a0001c0001t0003g0360
a0001c0001t0004g0359
a0001c0004t0002g0225
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0280
a0002c0002t0001g0358
a0003c0005t0001g0029
 41 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(38): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01123.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG02896.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
HG04228.hp1
NA18979.hp2
NA18994.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+3355dupT
c.302+3355dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232637343
chr2:232637343 C
C
 CTT
CTT
 11 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(8): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0003g0056
a0001c0001t0003g0251
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
 11 HG00544.hp2
HG01167.hp1
HG01261.hp1
others(8): Show 
HG00544.hp2
HG01167.hp1
HG01261.hp1
HG01934.hp2
HG01993.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.302+3354_302+3355d
others(4): Show 
c.302+3354_302+3355dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232637343
chr2:232637343 CT
CT
 C
C
 5 a0001c0001t0003g0270
a0002c0003t0001g0003
a0002c0003t0001g0068
others(2): Show 
a0001c0001t0003g0270
a0002c0003t0001g0003
a0002c0003t0001g0068
a0002c0003t0001g0069
a0003c0005t0001g0017
 6 HG02155.hp2
HG02897.hp1
NA18969.hp1
others(3): Show 
HG02155.hp2
HG02897.hp1
NA18969.hp1
NA18975.hp1
NA18989.hp2
NA19065.hp2
 intron_variant MODIFIER c.302+3355delT
c.302+3355delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232637343
chr2:232637389 G
G
 T
T
 1 a0001c0004t0003g0224
a0001c0004t0003g0224
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.302+3383G>T
c.302+3383G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637389
chr2:232637469 G
G
 A
A
 7 a0001c0004t0003g0071
a0002c0003t0001g0070
a0002c0003t0001g0072
others(4): Show 
a0001c0004t0003g0071
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
 7 HG00438.hp2
NA18747.hp1
NA18995.hp1
others(4): Show 
HG00438.hp2
NA18747.hp1
NA18995.hp1
NA18997.hp2
NA19000.hp2
NA19068.hp1
NA19077.hp1
 intron_variant MODIFIER c.302+3463G>A
c.302+3463G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637469
chr2:232637489 G
G
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.302+3483G>A
c.302+3483G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637489
chr2:232637634 G
G
 A
A
 82 a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
others(79): Show 
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0357
a0001c0001t0003g0360
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0006t0001g0267
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0059
a0003c0005t0001g0017
a0003c0005t0002g0018
a0003c0005t0002g0060
a0007c0010t0001g0346
 82 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(79): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00621.hp2
HG01256.hp1
HG01361.hp2
HG01496.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02148.hp2
HG02293.hp1
HG02523.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03209.hp1
HG03486.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18962.hp2
NA18972.hp2
NA18981.hp1
NA18983.hp1
NA18989.hp2
NA18990.hp1
NA18994.hp2
NA18995.hp2
NA19003.hp2
NA19010.hp2
NA19012.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
 intron_variant MODIFIER c.302+3628G>A
c.302+3628G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637634
chr2:232637719 A
A
 G
G
 13 a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0006g0269
others(10): Show 
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0020g0276
a0001c0001t0021g0272
a0002c0002t0001g0279
a0002c0002t0001g0280
 13 HG02109.hp2
HG02622.hp1
HG02630.hp1
others(10): Show 
HG02109.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.302+3713A>G
c.302+3713A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637719
chr2:232637954 A
A
 G
G
 4 a0001c0001t0003g0256
a0002c0002t0001g0254
a0002c0002t0001g0255
others(1): Show 
a0001c0001t0003g0256
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
 4 HG00140.hp1
HG01258.hp1
HG02602.hp1
others(1): Show 
HG00140.hp1
HG01258.hp1
HG02602.hp1
HG03669.hp1
 intron_variant MODIFIER c.302+3948A>G
c.302+3948A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232637954
chr2:232638097 T
T
 C
C
 1 a0001c0001t0006g0079
a0001c0001t0006g0079
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.302+4091T>C
c.302+4091T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638097
chr2:232638274 A
A
 G
G
 137 a0001c0001t0001g0012
a0001c0001t0001g0194
a0001c0001t0001g0265
others(134): Show 
a0001c0001t0001g0012
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0013
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0228
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0016g0216
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0001g0223
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0191
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0059
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0017
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0007c0010t0001g0346
 141 HG00099.hp1
HG00280.hp1
HG00323.hp2
others(138): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01256.hp1
HG01361.hp2
HG01496.hp2
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02523.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18988.hp1
NA18989.hp2
NA18990.hp1
NA18994.hp2
NA18995.hp2
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19068.hp2
NA19074.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.302+4268A>G
c.302+4268A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638274
chr2:232638303 G
G
 A
A
 1 a0002c0002t0001g0254
a0002c0002t0001g0254
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.302+4297G>A
c.302+4297G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638303
chr2:232638305 C
C
 T
T
 2 a0001c0001t0001g0356
a0001c0001t0003g0357
a0001c0001t0001g0356
a0001c0001t0003g0357
 2 HG02145.hp1
HG03579.hp2
HG02145.hp1
HG03579.hp2
 intron_variant MODIFIER c.302+4299C>T
c.302+4299C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638305
chr2:232638331 G
G
 T
T
 17 a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0293
others(14): Show 
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0298
a0001c0006t0005g0288
a0002c0002t0005g0284
a0002c0002t0005g0292
 19 HG01884.hp1
HG01891.hp1
HG02257.hp1
others(16): Show 
HG01884.hp1
HG01891.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.302+4325G>T
c.302+4325G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638331
chr2:232638384 G
G
 A
A
 4 a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0357
others(1): Show 
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0357
a0001c0001t0023g0309
 4 HG02145.hp1
HG02572.hp2
HG02886.hp1
others(1): Show 
HG02145.hp1
HG02572.hp2
HG02886.hp1
HG03579.hp2
 intron_variant MODIFIER c.302+4378G>A
c.302+4378G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638384
chr2:232638416 G
G
 A
A
 1 a0001c0001t0001g0356
a0001c0001t0001g0356
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.302+4410G>A
c.302+4410G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638416
chr2:232638546 C
C
 T
T
 1 a0002c0003t0001g0076
a0002c0003t0001g0076
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.302+4540C>T
c.302+4540C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638546
chr2:232638856 G
G
 T
T
 10 a0001c0001t0001g0077
a0001c0001t0002g0013
a0001c0001t0002g0178
others(7): Show 
a0001c0001t0001g0077
a0001c0001t0002g0013
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0004g0176
a0001c0001t0004g0177
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
 10 HG00280.hp2
HG01106.hp1
HG01261.hp2
others(7): Show 
HG00280.hp2
HG01106.hp1
HG01261.hp2
HG01346.hp1
HG02559.hp1
HG02698.hp2
HG03654.hp2
HG03688.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.302+4850G>T
c.302+4850G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638856
chr2:232638917 A
A
 G
G
 1 a0001c0001t0010g0298
a0001c0001t0010g0298
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.302+4911A>G
c.302+4911A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638917
chr2:232638927 A
A
 G
G
 3 a0001c0001t0005g0297
a0001c0001t0007g0296
a0001c0001t0010g0298
a0001c0001t0005g0297
a0001c0001t0007g0296
a0001c0001t0010g0298
 3 HG02559.hp2
HG02572.hp1
HG03209.hp2
HG02559.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.302+4921A>G
c.302+4921A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638927
chr2:232638968 G
G
 A
A
 6 a0001c0004t0001g0057
a0002c0003t0001g0080
a0003c0005t0001g0021
others(3): Show 
a0001c0004t0001g0057
a0002c0003t0001g0080
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 6 HG00673.hp2
HG01099.hp1
HG01433.hp2
others(3): Show 
HG00673.hp2
HG01099.hp1
HG01433.hp2
HG02723.hp1
HG03490.hp1
HG03831.hp1
 intron_variant MODIFIER c.302+4962G>A
c.302+4962G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232638968
chr2:232639056 T
T
 C
C
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.302+5050T>C
c.302+5050T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639056
chr2:232639152 C
C
 T
T
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.302+5146C>T
c.302+5146C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639152
chr2:232639158 G
G
 A
A
 4 a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
others(1): Show 
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0004t0001g0182
 5 HG03453.hp1
HG03471.hp1
HG03516.hp2
others(2): Show 
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
NA19240.hp1
 intron_variant MODIFIER c.302+5152G>A
c.302+5152G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639158
chr2:232639194 A
A
 C
C
 1 a0002c0002t0001g0173
a0002c0002t0001g0173
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.302+5188A>C
c.302+5188A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639194
chr2:232639279 G
G
 A
A
 140 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(137): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0003c0005t0006g0058
a0003c0005t0006g0259
a0005c0008t0001g0020
 147 HG00099.hp2
HG00140.hp1
HG00323.hp2
others(144): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+5273G>A
c.302+5273G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639279
chr2:232639366 T
T
 C
C
 1 a0002c0002t0001g0318
a0002c0002t0001g0318
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.302+5360T>C
c.302+5360T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639366
chr2:232639452 G
G
 A
A
 2 a0001c0004t0003g0071
a0002c0003t0001g0070
a0001c0004t0003g0071
a0002c0003t0001g0070
 2 NA18995.hp1
NA19077.hp1
NA18995.hp1
NA19077.hp1
 intron_variant MODIFIER c.302+5446G>A
c.302+5446G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639452
chr2:232639636 T
T
 C
C
 138 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(135): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0359
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0003c0005t0006g0058
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 146 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+5630T>C
c.302+5630T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639636
chr2:232639903 C
C
 T
T
 6 a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
others(3): Show 
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0006t0005g0288
a0002c0002t0022g0263
 6 HG01891.hp1
HG02257.hp2
HG02451.hp2
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02451.hp2
NA18522.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.302+5897C>T
c.302+5897C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232639903
chr2:232640018 C
C
 A
A
 1 a0001c0001t0004g0320
a0001c0001t0004g0320
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.302+6012C>A
c.302+6012C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640018
chr2:232640437 G
G
 A
A
 8 a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
others(5): Show 
a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
a0002c0002t0005g0284
a0003c0005t0006g0259
 8 HG01243.hp1
HG02055.hp1
HG02615.hp1
others(5): Show 
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02809.hp2
HG02922.hp1
HG03471.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.302+6431G>A
c.302+6431G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640437
chr2:232640551 A
A
 G
G
 1 a0002c0003t0001g0099
a0002c0003t0001g0099
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.302+6545A>G
c.302+6545A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640551
chr2:232640567 T
T
 A
A
 142 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(139): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0004g0359
a0001c0001t0005g0286
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0006g0058
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+6561T>A
c.302+6561T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640567
chr2:232640680 C
C
 T
T
 3 a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
 3 HG02280.hp1
HG02886.hp2
HG06807.hp2
HG02280.hp1
HG02886.hp2
HG06807.hp2
 intron_variant MODIFIER c.302+6674C>T
c.302+6674C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640680
chr2:232640693 A
A
 G
G
 11 a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
others(8): Show 
a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0004t0002g0262
a0001c0004t0006g0009
a0002c0002t0005g0284
a0003c0005t0006g0259
 12 HG01243.hp1
HG02055.hp1
HG02615.hp1
others(9): Show 
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02647.hp2
HG02809.hp2
HG02922.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.302+6687A>G
c.302+6687A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640693
chr2:232640704 A
A
 C
C
 1 a0002c0002t0001g0363
a0002c0002t0001g0363
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.302+6698A>C
c.302+6698A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640704
chr2:232640812 C
C
 T
T
 28 a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
others(25): Show 
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0251
a0001c0001t0003g0256
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
 30 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(27): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+6806C>T
c.302+6806C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232640812
chr2:232641136 G
G
 A
A
 1 a0001c0004t0003g0183
a0001c0004t0003g0183
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.302+7130G>A
c.302+7130G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641136
chr2:232641176 G
G
 A
A
 3 a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0230
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0230
 3 HG00408.hp2
HG02523.hp2
NA18747.hp2
HG00408.hp2
HG02523.hp2
NA18747.hp2
 intron_variant MODIFIER c.302+7170G>A
c.302+7170G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641176
chr2:232641189 C
C
 T
T
 1 a0001c0001t0002g0355
a0001c0001t0002g0355
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.302+7183C>T
c.302+7183C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641189
chr2:232641198 T
T
 C
C
 144 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(141): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0006g0058
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 152 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+7192T>C
c.302+7192T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641198
chr2:232641336 A
A
 G
G
 14 a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
others(11): Show 
a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0012g0351
a0001c0004t0001g0167
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0002c0003t0001g0170
a0003c0005t0002g0015
 14 HG00323.hp1
HG03041.hp1
HG03139.hp1
others(11): Show 
HG00323.hp1
HG03041.hp1
HG03139.hp1
NA18942.hp2
NA18972.hp2
NA18981.hp1
NA18998.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+7330A>G
c.302+7330A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641336
chr2:232641557 T
T
 A
A
 3 a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
 3 HG02280.hp1
HG02886.hp2
HG06807.hp2
HG02280.hp1
HG02886.hp2
HG06807.hp2
 intron_variant MODIFIER c.302+7551T>A
c.302+7551T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641557
chr2:232641560 G
G
 A
A
 2 a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0009g0273
a0001c0001t0009g0274
 2 HG02109.hp2
HG03486.hp1
HG02109.hp2
HG03486.hp1
 intron_variant MODIFIER c.302+7554G>A
c.302+7554G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641560
chr2:232641589 G
G
 A
A
 138 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(135): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0004g0359
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0006g0058
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 146 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+7583G>A
c.302+7583G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641589
chr2:232641608 T
T
 C
C
 1 a0001c0009t0005g0299
a0001c0009t0005g0299
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.302+7602T>C
c.302+7602T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641608
chr2:232641757 G
G
 A
A
 6 a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
others(3): Show 
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0006t0005g0288
a0002c0002t0022g0263
 6 HG01891.hp1
HG02257.hp2
HG02451.hp2
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02451.hp2
NA18522.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.302+7751G>A
c.302+7751G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641757
chr2:232641779 A
A
 C
C
 1 a0001c0001t0010g0306
a0001c0001t0010g0306
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.302+7773A>C
c.302+7773A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641779
chr2:232641925 G
G
 A
A
 2 a0001c0001t0001g0036
a0001c0001t0003g0037
a0001c0001t0001g0036
a0001c0001t0003g0037
 2 HG02145.hp2
NA18522.hp2
HG02145.hp2
NA18522.hp2
 intron_variant MODIFIER c.302+7919G>A
c.302+7919G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641925
chr2:232641958 G
G
 A
A
 11 a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
others(8): Show 
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0002c0003t0001g0170
 11 HG00323.hp1
NA18942.hp2
NA18972.hp2
others(8): Show 
HG00323.hp1
NA18942.hp2
NA18972.hp2
NA18981.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+7952G>A
c.302+7952G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641958
chr2:232641960 G
G
 A
A
 2 a0002c0002t0005g0284
a0003c0005t0006g0259
a0002c0002t0005g0284
a0003c0005t0006g0259
 2 HG02809.hp2
HG03540.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.302+7954G>A
c.302+7954G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641960
chr2:232641978 G
G
 GC
GC
 12 a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
others(9): Show 
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0002c0003t0001g0189
 12 HG02135.hp2
NA18939.hp2
NA18944.hp1
others(9): Show 
HG02135.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
NA19084.hp2
 intron_variant MODIFIER c.302+7973dupC
c.302+7973dupC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232641978
chr2:232641992 C
C
 T
T
 174 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(171): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0297
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
 182 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(179): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+7986C>T
c.302+7986C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232641992
chr2:232642171 T
T
 G
G
 2 a0001c0001t0004g0352
a0001c0001t0012g0351
a0001c0001t0004g0352
a0001c0001t0012g0351
 2 NA18981.hp1
NA19056.hp1
NA18981.hp1
NA19056.hp1
 intron_variant MODIFIER c.302+8165T>G
c.302+8165T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642171
chr2:232642373 C
C
 CA
CA
 56 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0048
others(53): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0002g0222
a0001c0001t0003g0037
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0007g0304
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0004t0001g0057
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0003g0111
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0001g0047
a0002c0002t0001g0106
a0002c0002t0005g0302
a0002c0003t0001g0069
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0170
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
a0008c0013t0001g0027
 56 HG00280.hp1
HG00323.hp1
HG00544.hp2
others(53): Show 
HG00280.hp1
HG00323.hp1
HG00544.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01433.hp2
HG01496.hp1
HG01993.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02109.hp2
HG02145.hp2
HG02155.hp2
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02572.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp1
HG02897.hp2
HG03239.hp1
HG03486.hp1
HG03490.hp1
HG03516.hp2
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG04184.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18951.hp2
NA18972.hp2
NA18981.hp1
NA18981.hp2
NA18999.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19085.hp2
NA19087.hp2
NA19089.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.302+8391dupA
c.302+8391dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232642373
chr2:232642373 C
C
 CAA
CAA
 8 a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0003g0357
others(5): Show 
a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0003g0357
a0001c0001t0007g0290
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0004t0004g0168
a0003c0005t0002g0015
 8 HG02145.hp1
HG02257.hp1
HG03041.hp1
others(5): Show 
HG02145.hp1
HG02257.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03516.hp1
HG03579.hp2
NA19065.hp1
 intron_variant MODIFIER c.302+8390_302+8391d
others(4): Show 
c.302+8390_302+8391dupAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232642373
chr2:232642373 CA
CA
 C
C
 120 a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
others(117): Show 
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0253
a0001c0001t0002g0349
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0011t0003g0043
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0350
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0006g0058
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0006c0012t0001g0100
 128 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18951.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.302+8391delA
c.302+8391delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232642373
chr2:232642373 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 4 a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
 4 HG02055.hp1
HG02615.hp1
HG02922.hp1
others(1): Show 
HG02055.hp1
HG02615.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.302+8380_302+8391d
others(14): Show 
c.302+8380_302+8391delAAAAAAAAAAAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232642373
chr2:232642447 G
G
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0265
a0001c0001t0001g0019
a0001c0001t0001g0265
 2 HG03540.hp1
NA20300.hp2
HG03540.hp1
NA20300.hp2
 intron_variant MODIFIER c.302+8441G>A
c.302+8441G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642447
chr2:232642456 G
G
 A
A
 1 a0002c0002t0001g0233
a0002c0002t0001g0233
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.302+8450G>A
c.302+8450G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642456
chr2:232642551 G
G
 A
A
 135 a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0194
others(132): Show 
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0004g0359
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0006g0058
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 143 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(140): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+8545G>A
c.302+8545G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642551
chr2:232642675 T
T
 G
G
 2 a0001c0001t0002g0321
a0003c0005t0002g0060
a0001c0001t0002g0321
a0003c0005t0002g0060
 2 HG03654.hp1
HG03688.hp1
HG03654.hp1
HG03688.hp1
 intron_variant MODIFIER c.302+8669T>G
c.302+8669T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642675
chr2:232642738 C
C
 T
T
 1 a0002c0002t0001g0046
a0002c0002t0001g0046
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.302+8732C>T
c.302+8732C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642738
chr2:232642788 A
A
 G
G
 1 a0002c0002t0001g0255
a0002c0002t0001g0255
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.302+8782A>G
c.302+8782A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642788
chr2:232642855 G
G
 A
A
 368 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(365): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0056
a0001c0001t0003g0117
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0357
a0001c0001t0003g0360
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0001g0223
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0002g0262
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0003g0071
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0111
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0001c0011t0003g0043
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 381 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(378): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.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
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.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
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.302+8849G>A
c.302+8849G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642855
chr2:232642896 C
C
 G
G
 1 a0001c0001t0006g0026
a0001c0001t0006g0026
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.302+8890C>G
c.302+8890C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642896
chr2:232642973 C
C
 T
T
 18 a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
others(15): Show 
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0006t0005g0288
a0002c0002t0022g0263
a0002c0003t0001g0170
 18 HG00323.hp1
HG01891.hp1
HG02257.hp2
others(15): Show 
HG00323.hp1
HG01891.hp1
HG02257.hp2
HG02451.hp2
NA18522.hp1
NA18942.hp2
NA18972.hp2
NA18981.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+8967C>T
c.302+8967C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232642973
chr2:232643003 G
G
 A
A
 17 a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0006t0005g0288
a0002c0002t0005g0284
a0002c0002t0022g0263
a0003c0005t0006g0259
 17 HG01243.hp1
HG01891.hp1
HG02055.hp1
others(14): Show 
HG01243.hp1
HG01891.hp1
HG02055.hp1
HG02257.hp2
HG02451.hp2
HG02615.hp1
HG02809.hp2
HG02922.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.302+8997G>A
c.302+8997G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643003
chr2:232643040 G
G
 A
A
 1 a0002c0002t0001g0173
a0002c0002t0001g0173
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.302+9034G>A
c.302+9034G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643040
chr2:232643100 G
G
 C
C
 5 a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
others(2): Show 
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
 5 HG01891.hp2
HG02965.hp1
HG03130.hp2
others(2): Show 
HG01891.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.302+9094G>C
c.302+9094G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643100
chr2:232643216 AT
AT
 A
A
 4 a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0258
others(1): Show 
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0258
a0001c0001t0003g0117
 4 HG01433.hp1
HG01516.hp1
HG03710.hp1
others(1): Show 
HG01433.hp1
HG01516.hp1
HG03710.hp1
NA20805.hp2
 intron_variant MODIFIER c.302+9211delT
c.302+9211delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643216
chr2:232643294 T
T
 A
A
 6 a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
others(3): Show 
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0007g0296
a0001c0001t0010g0298
a0002c0003t0001g0120
 6 HG02572.hp1
HG02976.hp1
HG03139.hp2
others(3): Show 
HG02572.hp1
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
 intron_variant MODIFIER c.302+9288T>A
c.302+9288T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643294
chr2:232643409 T
T
 TA
TA
 10 a0001c0001t0001g0052
a0001c0004t0001g0221
a0002c0002t0001g0053
others(7): Show 
a0001c0001t0001g0052
a0001c0004t0001g0221
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
 10 HG01167.hp1
HG01934.hp2
HG02293.hp2
others(7): Show 
HG01167.hp1
HG01934.hp2
HG02293.hp2
HG02300.hp2
NA18947.hp2
NA18975.hp2
NA18981.hp2
NA18983.hp2
NA19010.hp1
NA19091.hp1
 intron_variant MODIFIER c.302+9404dupA
c.302+9404dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232643409
chr2:232643431 A
A
 G
G
 1 a0001c0001t0001g0012
a0001c0001t0001g0012
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.302+9425A>G
c.302+9425A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643431
chr2:232643523 C
C
 T
T
 22 a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
others(19): Show 
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0021g0272
a0001c0006t0005g0288
a0002c0002t0005g0284
a0002c0002t0022g0263
a0003c0005t0006g0058
a0003c0005t0006g0259
 22 HG01109.hp2
HG01243.hp1
HG01891.hp1
others(19): Show 
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02055.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG03471.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.302+9517C>T
c.302+9517C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643523
chr2:232643829 C
C
 T
T
 8 a0001c0001t0003g0307
a0001c0001t0005g0364
a0001c0001t0016g0216
others(5): Show 
a0001c0001t0003g0307
a0001c0001t0005g0364
a0001c0001t0016g0216
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0003t0001g0220
 8 HG01891.hp2
HG02109.hp1
HG02965.hp1
others(5): Show 
HG01891.hp2
HG02109.hp1
HG02965.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.302+9823C>T
c.302+9823C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643829
chr2:232643840 G
G
 A
A
 1 a0001c0001t0006g0361
a0001c0001t0006g0361
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.302+9834G>A
c.302+9834G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643840
chr2:232643921 C
C
 A
A
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.302+9915C>A
c.302+9915C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643921
chr2:232643934 G
G
 A
A
 1 a0002c0002t0001g0106
a0002c0002t0001g0106
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.302+9928G>A
c.302+9928G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643934
chr2:232643967 T
T
 C
C
 186 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(183): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0297
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
 194 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(191): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+9961T>C
c.302+9961T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232643967
chr2:232644012 T
T
 C
C
 3 a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0012g0351
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0012g0351
 3 NA18981.hp1
NA19056.hp1
NA19087.hp2
NA18981.hp1
NA19056.hp1
NA19087.hp2
 intron_variant MODIFIER c.302+10006T>C
c.302+10006T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644012
chr2:232644106 C
C
 A
A
 39 a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0002g0323
others(36): Show 
a0001c0001t0002g0222
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0056
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0127
a0001c0004t0003g0061
a0001c0004t0003g0063
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0003c0005t0001g0017
a0003c0005t0002g0018
 39 HG00423.hp1
HG00621.hp2
HG01256.hp1
others(36): Show 
HG00423.hp1
HG00621.hp2
HG01256.hp1
HG01361.hp2
HG01496.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02148.hp2
HG02293.hp1
HG04184.hp1
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18962.hp2
NA18983.hp1
NA18989.hp2
NA18990.hp1
NA18994.hp1
NA18995.hp2
NA19012.hp2
NA19056.hp2
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA19088.hp1
 intron_variant MODIFIER c.302+10100C>A
c.302+10100C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644106
chr2:232644196 GCCTCAC
GCCTCAC
 G
G
 6 a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
others(3): Show 
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0006t0005g0288
a0002c0002t0022g0263
 6 HG01891.hp1
HG02257.hp2
HG02451.hp2
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02451.hp2
NA18522.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.302+10195_302+1020
others(10): Show 
c.302+10195_302+10200delACCCTC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232644196
chr2:232644301 G
G
 A
A
 3 a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
 3 HG02280.hp1
HG02886.hp2
HG06807.hp2
HG02280.hp1
HG02886.hp2
HG06807.hp2
 intron_variant MODIFIER c.302+10295G>A
c.302+10295G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644301
chr2:232644316 T
T
 G
G
 1 a0001c0004t0002g0128
a0001c0004t0002g0128
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.302+10310T>G
c.302+10310T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644316
chr2:232644319 C
C
 T
T
 10 a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
others(7): Show 
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
a0002c0002t0005g0284
a0003c0005t0006g0259
 10 HG01243.hp1
HG02055.hp1
HG02615.hp1
others(7): Show 
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02809.hp2
HG02922.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA20300.hp2
 intron_variant MODIFIER c.302+10313C>T
c.302+10313C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644319
chr2:232644371 G
G
 C
C
 1 a0002c0002t0001g0173
a0002c0002t0001g0173
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.302+10365G>C
c.302+10365G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644371
chr2:232644418 A
A
 G
G
 12 a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
others(9): Show 
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0002c0003t0001g0189
 12 HG02135.hp2
NA18939.hp2
NA18944.hp1
others(9): Show 
HG02135.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
NA19084.hp2
 intron_variant MODIFIER c.302+10412A>G
c.302+10412A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644418
chr2:232644501 T
T
 C
C
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.302+10495T>C
c.302+10495T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644501
chr2:232644511 C
C
 A
A
 1 a0001c0006t0005g0365
a0001c0006t0005g0365
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.302+10505C>A
c.302+10505C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644511
chr2:232644513 A
A
 T
T
 2 a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0009g0273
a0001c0001t0009g0274
 2 HG02109.hp2
HG03486.hp1
HG02109.hp2
HG03486.hp1
 intron_variant MODIFIER c.302+10507A>T
c.302+10507A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644513
chr2:232644524 T
T
 A
A
 6 a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
others(3): Show 
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0260
a0002c0003t0001g0261
 6 HG00642.hp2
HG01123.hp1
HG01243.hp2
others(3): Show 
HG00642.hp2
HG01123.hp1
HG01243.hp2
HG01255.hp1
HG01496.hp1
HG01993.hp1
 intron_variant MODIFIER c.302+10518T>A
c.302+10518T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644524
chr2:232644575 C
C
 T
T
 11 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0003g0037
others(8): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0003g0037
a0001c0001t0005g0297
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0004t0001g0057
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 11 HG01099.hp1
HG01106.hp2
HG01433.hp2
others(8): Show 
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG02109.hp2
HG02145.hp2
HG02559.hp2
HG02723.hp1
HG03486.hp1
HG03490.hp1
HG03831.hp1
NA18522.hp2
 intron_variant MODIFIER c.302+10569C>T
c.302+10569C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644575
chr2:232644707 C
C
 T
T
 10 a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
others(7): Show 
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
a0002c0002t0005g0284
a0003c0005t0006g0259
 10 HG01243.hp1
HG02055.hp1
HG02615.hp1
others(7): Show 
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02809.hp2
HG02922.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA20300.hp2
 intron_variant MODIFIER c.302+10701C>T
c.302+10701C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644707
chr2:232644791 C
C
 T
T
 1 a0002c0002t0001g0233
a0002c0002t0001g0233
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.302+10785C>T
c.302+10785C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644791
chr2:232644794 A
A
 AT
AT
 23 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0003g0037
others(20): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0249
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0005g0297
a0001c0001t0007g0296
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0004t0001g0057
a0001c0004t0004g0065
a0002c0002t0001g0102
a0002c0002t0001g0254
a0002c0002t0001g0345
a0002c0003t0001g0120
a0002c0003t0001g0165
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 23 HG00140.hp1
HG00408.hp1
HG01099.hp1
others(20): Show 
HG00140.hp1
HG00408.hp1
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG01975.hp2
HG02109.hp2
HG02145.hp2
HG02559.hp2
HG02572.hp1
HG02723.hp1
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03490.hp1
HG03831.hp1
NA18522.hp2
NA18988.hp2
NA19060.hp1
NA20752.hp1
 intron_variant MODIFIER c.302+10808dupT
c.302+10808dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232644794
chr2:232644794 AT
AT
 A
A
 28 a0001c0001t0001g0019
a0001c0001t0001g0172
a0001c0001t0001g0265
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0172
a0001c0001t0001g0265
a0001c0001t0002g0322
a0001c0001t0002g0349
a0001c0001t0004g0320
a0001c0001t0005g0300
a0001c0001t0006g0361
a0001c0004t0002g0016
a0001c0004t0002g0078
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0262
a0001c0004t0003g0111
a0001c0004t0006g0009
a0001c0006t0001g0034
a0002c0002t0001g0132
a0002c0002t0015g0313
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0088
a0002c0003t0001g0112
a0002c0003t0001g0121
a0002c0003t0001g0196
a0002c0003t0019g0129
a0006c0012t0001g0100
a0007c0010t0001g0346
 29 HG00621.hp1
HG02155.hp2
HG02647.hp2
others(26): Show 
HG00621.hp1
HG02155.hp2
HG02647.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
NA18941.hp1
NA18941.hp2
NA18957.hp1
NA18959.hp2
NA18973.hp1
NA18975.hp1
NA18990.hp1
NA19009.hp1
NA19012.hp2
NA19055.hp1
NA19055.hp2
NA19062.hp1
NA19081.hp2
NA19083.hp2
NA19089.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.302+10808delT
c.302+10808delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232644794
chr2:232644794 ATTT
ATTT
 A
A
 8 a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
others(5): Show 
a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
a0002c0002t0005g0284
a0003c0005t0006g0259
 8 HG01243.hp1
HG02055.hp1
HG02615.hp1
others(5): Show 
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02809.hp2
HG02922.hp1
HG03471.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.302+10806_302+1080
others(7): Show 
c.302+10806_302+10808delTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232644794
chr2:232644814 T
T
 A
A
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.302+10808T>A
c.302+10808T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644814
chr2:232644922 G
G
 A
A
 6 a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
others(3): Show 
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0006t0005g0288
a0002c0002t0022g0263
 6 HG01891.hp1
HG02257.hp2
HG02451.hp2
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02451.hp2
NA18522.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.302+10916G>A
c.302+10916G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644922
chr2:232644942 A
A
 AT
AT
 27 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0002g0355
others(24): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0002g0355
a0001c0001t0003g0032
a0001c0001t0003g0360
a0001c0001t0004g0031
a0001c0001t0004g0344
a0001c0001t0005g0297
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0020g0276
a0001c0004t0001g0057
a0001c0004t0002g0161
a0001c0004t0004g0163
a0001c0004t0004g0164
a0002c0002t0001g0011
a0002c0002t0001g0254
a0002c0002t0001g0363
a0002c0003t0001g0075
a0002c0003t0001g0162
a0002c0003t0001g0261
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 28 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(25): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00642.hp2
HG00673.hp1
HG01099.hp1
HG01106.hp2
HG01243.hp1
HG01433.hp2
HG02055.hp1
HG02056.hp1
HG02109.hp2
HG02148.hp2
HG02559.hp2
HG02615.hp1
HG02723.hp1
HG02922.hp1
HG03041.hp2
HG03098.hp1
HG03471.hp2
HG03486.hp1
HG03831.hp1
NA18906.hp1
NA18946.hp2
NA18997.hp2
NA19030.hp1
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.302+10957dupT
c.302+10957dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232644942
chr2:232644942 AT
AT
 A
A
 31 a0001c0001t0002g0013
a0001c0001t0002g0349
a0001c0001t0002g0367
others(28): Show 
a0001c0001t0002g0013
a0001c0001t0002g0349
a0001c0001t0002g0367
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0004g0320
a0001c0001t0005g0286
a0001c0001t0005g0364
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0016g0216
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0011t0003g0043
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0310
a0002c0002t0001g0345
a0002c0002t0022g0263
a0002c0003t0001g0089
a0002c0003t0001g0121
a0002c0003t0001g0133
 31 HG00099.hp2
HG01070.hp2
HG01496.hp2
others(28): Show 
HG00099.hp2
HG01070.hp2
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG02109.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02735.hp2
HG02738.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03195.hp2
HG03688.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18948.hp2
NA18952.hp2
NA19043.hp1
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.302+10957delT
c.302+10957delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232644942
chr2:232644942 ATTTTTTT
ATTTTTTT
 A
A
 12 a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
others(9): Show 
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0002c0003t0001g0170
 12 HG00323.hp1
NA18942.hp2
NA18951.hp1
others(9): Show 
HG00323.hp1
NA18942.hp2
NA18951.hp1
NA18972.hp2
NA18981.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+10951_302+1095
others(11): Show 
c.302+10951_302+10957delTTTTTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232644942
chr2:232644981 A
A
 G
G
 2 a0002c0002t0005g0284
a0003c0005t0006g0259
a0002c0002t0005g0284
a0003c0005t0006g0259
 2 HG02809.hp2
HG03540.hp2
HG02809.hp2
HG03540.hp2
 intron_variant MODIFIER c.302+10975A>G
c.302+10975A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232644981
chr2:232645031 T
T
 G
G
 1 a0002c0003t0001g0066
a0002c0003t0001g0066
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.302+11025T>G
c.302+11025T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645031
chr2:232645051 C
C
 A
A
 189 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(186): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0057
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 197 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+11045C>A
c.302+11045C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645051
chr2:232645081 C
C
 G
G
 208 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(205): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0182
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 219 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(216): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+11075C>G
c.302+11075C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645081
chr2:232645141 T
T
 C
C
 182 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
others(179): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 190 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(187): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+11135T>C
c.302+11135T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645141
chr2:232645142 G
G
 A
A
 13 a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
others(10): Show 
a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0002c0003t0001g0170
a0003c0005t0002g0015
 13 HG00323.hp1
HG03041.hp1
HG03139.hp1
others(10): Show 
HG00323.hp1
HG03041.hp1
HG03139.hp1
NA18942.hp2
NA18972.hp2
NA18981.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+11136G>A
c.302+11136G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645142
chr2:232645250 C
C
 T
T
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.302+11244C>T
c.302+11244C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645250
chr2:232645268 C
C
 T
T
 6 a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
others(3): Show 
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0007g0296
a0001c0001t0010g0298
a0002c0003t0001g0120
 6 HG02572.hp1
HG02976.hp1
HG03139.hp2
others(3): Show 
HG02572.hp1
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
 intron_variant MODIFIER c.302+11262C>T
c.302+11262C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645268
chr2:232645301 C
C
 T
T
 198 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(195): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 206 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(203): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+11295C>T
c.302+11295C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645301
chr2:232645333 C
C
 G
G
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.302+11327C>G
c.302+11327C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645333
chr2:232645358 G
G
 C
C
 1 a0001c0001t0007g0290
a0001c0001t0007g0290
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.302+11352G>C
c.302+11352G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645358
chr2:232645360 C
C
 A
A
 14 a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
others(11): Show 
a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0002c0003t0001g0170
a0003c0005t0002g0015
 14 HG00323.hp1
HG03041.hp1
HG03139.hp1
others(11): Show 
HG00323.hp1
HG03041.hp1
HG03139.hp1
NA18942.hp2
NA18951.hp1
NA18972.hp2
NA18981.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+11354C>A
c.302+11354C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645360
chr2:232645556 C
C
 T
T
 1 a0002c0003t0001g0160
a0002c0003t0001g0160
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.302+11550C>T
c.302+11550C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645556
chr2:232645762 A
A
 G
G
 3 a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0017g0311
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0017g0311
 3 HG01975.hp1
NA18948.hp2
NA18952.hp1
HG01975.hp1
NA18948.hp2
NA18952.hp1
 intron_variant MODIFIER c.302+11756A>G
c.302+11756A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645762
chr2:232645912 A
A
 G
G
 120 a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
others(117): Show 
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0359
a0001c0001t0005g0364
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 128 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+11906A>G
c.302+11906A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232645912
chr2:232646052 C
C
 T
T
 1 a0001c0001t0001g0012
a0001c0001t0001g0012
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.302+12046C>T
c.302+12046C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646052
chr2:232646094 G
G
 A
A
 1 a0002c0003t0019g0129
a0002c0003t0019g0129
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.302+12088G>A
c.302+12088G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646094
chr2:232646196 C
C
 T
T
 29 a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
others(26): Show 
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
 31 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(28): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG04228.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+12190C>T
c.302+12190C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646196
chr2:232646197 G
G
 A
A
 1 a0001c0004t0003g0082
a0001c0004t0003g0082
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.302+12191G>A
c.302+12191G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646197
chr2:232646201 G
G
 C
C
 4 a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
 4 HG02055.hp1
HG02615.hp1
HG02922.hp1
others(1): Show 
HG02055.hp1
HG02615.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.302+12195G>C
c.302+12195G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646201
chr2:232646269 T
T
 C
C
 43 a0001c0001t0001g0024
a0001c0001t0002g0246
a0001c0001t0002g0252
others(40): Show 
a0001c0001t0001g0024
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0003t0001g0189
 45 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(42): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02135.hp2
HG02280.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG02886.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG04228.hp1
HG06807.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
NA19084.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+12263T>C
c.302+12263T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646269
chr2:232646293 T
T
 C
C
 1 a0001c0001t0002g0323
a0001c0001t0002g0323
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.302+12287T>C
c.302+12287T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646293
chr2:232646308 C
C
 A
A
 1 a0001c0001t0006g0030
a0001c0001t0006g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.302+12302C>A
c.302+12302C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646308
chr2:232646391 C
C
 T
T
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.302+12385C>T
c.302+12385C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646391
chr2:232646429 T
T
 G
G
 5 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0001g0047
 5 HG00544.hp2
HG02300.hp1
NA18951.hp2
others(2): Show 
HG00544.hp2
HG02300.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.302+12423T>G
c.302+12423T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646429
chr2:232646436 C
C
 CT
CT
 72 a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
others(69): Show 
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0235
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0360
a0001c0001t0004g0158
a0001c0001t0004g0344
a0001c0001t0005g0364
a0001c0001t0006g0269
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0305
a0001c0001t0016g0216
a0001c0001t0020g0276
a0001c0004t0001g0156
a0001c0004t0002g0128
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0011t0003g0043
a0002c0002t0001g0046
a0002c0002t0001g0199
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0348
a0002c0002t0005g0292
a0002c0002t0005g0362
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0074
a0002c0003t0001g0076
a0002c0003t0001g0110
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0189
a0002c0003t0001g0220
a0002c0003t0018g0005
 74 HG00099.hp2
HG00140.hp1
HG00323.hp2
others(71): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02148.hp2
HG02451.hp1
HG02602.hp2
HG02630.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG04228.hp1
NA18906.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18959.hp1
NA18966.hp2
NA18967.hp2
NA18975.hp2
NA18979.hp1
NA18980.hp2
NA18988.hp1
NA19000.hp1
NA19000.hp2
NA19004.hp2
NA19043.hp1
NA19043.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.302+12456dupT
c.302+12456dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232646436
chr2:232646436 C
C
 CTT
CTT
 67 a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0204
others(64): Show 
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0004g0359
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0255
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0004c0007t0001g0006
a0004c0007t0001g0218
a0006c0012t0001g0100
 73 HG00099.hp1
HG00558.hp2
HG00597.hp2
others(70): Show 
HG00099.hp1
HG00558.hp2
HG00597.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01975.hp1
HG02027.hp2
HG02056.hp2
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02735.hp2
HG03098.hp2
HG03225.hp2
HG03492.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.302+12455_302+1245
others(6): Show 
c.302+12455_302+12456dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232646436
chr2:232646436 CT
CT
 C
C
 49 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(46): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0003g0032
a0001c0001t0003g0228
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0005g0297
a0001c0001t0005g0303
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0278
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0008g0283
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0001t0021g0272
a0001c0004t0001g0057
a0001c0004t0002g0130
a0001c0004t0002g0134
a0001c0004t0003g0061
a0001c0004t0003g0111
a0001c0004t0004g0135
a0001c0004t0006g0041
a0001c0004t0006g0042
a0002c0002t0001g0053
a0002c0002t0001g0174
a0002c0002t0001g0318
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0003t0001g0120
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0005c0008t0001g0022
a0008c0013t0001g0027
 49 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(46): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp2
NA18906.hp2
NA18962.hp2
NA18998.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19085.hp1
NA19085.hp2
NA19089.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.302+12456delT
c.302+12456delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232646436
chr2:232646436 CTT
CTT
 C
C
 9 a0001c0001t0001g0265
a0001c0001t0006g0277
a0001c0001t0008g0285
others(6): Show 
a0001c0001t0001g0265
a0001c0001t0006g0277
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0010g0301
a0001c0006t0005g0288
a0002c0002t0022g0263
a0002c0003t0001g0121
 9 HG01891.hp1
HG02257.hp2
HG02735.hp1
others(6): Show 
HG01891.hp1
HG02257.hp2
HG02735.hp1
HG02897.hp2
HG03540.hp1
NA18522.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.302+12455_302+1245
others(6): Show 
c.302+12455_302+12456delTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232646436
chr2:232646436 CTTT
CTTT
 C
C
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0005g0286
a0002c0002t0001g0047
 6 HG00544.hp2
HG02300.hp1
HG02451.hp2
others(3): Show 
HG00544.hp2
HG02300.hp1
HG02451.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.302+12454_302+1245
others(7): Show 
c.302+12454_302+12456delTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232646436
chr2:232646436 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 2 a0001c0001t0005g0300
a0001c0009t0005g0299
a0001c0001t0005g0300
a0001c0009t0005g0299
 2 HG03239.hp1
HG03669.hp2
HG03239.hp1
HG03669.hp2
 intron_variant MODIFIER c.302+12446_302+1245
others(15): Show 
c.302+12446_302+12456delTTTTTTTTTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232646436
chr2:232646479 CTG
CTG
 C
C
 29 a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
others(26): Show 
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
 31 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(28): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG04228.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+12475_302+1247
others(6): Show 
c.302+12475_302+12476delGT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232646479
chr2:232646485 C
C
 T
T
 1 a0001c0004t0004g0171
a0001c0004t0004g0171
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.302+12479C>T
c.302+12479C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646485
chr2:232646717 G
G
 A
A
 18 a0001c0001t0001g0077
a0001c0001t0002g0013
a0001c0001t0002g0118
others(15): Show 
a0001c0001t0001g0077
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0003g0117
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0004t0002g0136
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0003c0005t0002g0060
 18 HG00140.hp2
HG00280.hp2
HG01106.hp1
others(15): Show 
HG00140.hp2
HG00280.hp2
HG01106.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01516.hp1
HG02559.hp1
HG02698.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.302+12711G>A
c.302+12711G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232646717
chr2:232647061 C
C
 G
G
 6 a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
others(3): Show 
a0001c0001t0001g0033
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
 6 HG01243.hp1
HG02055.hp1
HG02615.hp1
others(3): Show 
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02922.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.302+13055C>G
c.302+13055C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232647061
chr2:232647109 A
A
 G
G
 1 a0002c0002t0001g0132
a0002c0002t0001g0132
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.302+13103A>G
c.302+13103A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232647109
chr2:232647416 G
G
 C
C
 122 a0001c0001t0001g0024
a0001c0001t0001g0194
a0001c0001t0001g0315
others(119): Show 
a0001c0001t0001g0024
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0359
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0126
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.302+13410G>C
c.302+13410G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232647416
chr2:232647643 C
C
 CT
CT
 6 a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
others(3): Show 
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0006t0005g0288
a0002c0002t0022g0263
 6 HG01891.hp1
HG02257.hp2
HG02451.hp2
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02451.hp2
NA18522.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.302+13647dupT
c.302+13647dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232647643
chr2:232647643 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 65 a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0315
others(62): Show 
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0004g0359
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0094
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0255
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0193
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
 71 HG00099.hp1
HG00544.hp1
HG00558.hp2
others(68): Show 
HG00099.hp1
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01167.hp2
HG01975.hp1
HG02027.hp2
HG02056.hp2
HG02083.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03492.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18942.hp1
NA18944.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp1
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19062.hp1
NA19068.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.302+13640_302+1364
others(12): Show 
c.302+13640_302+13647dupTTTTTTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232647643
chr2:232647643 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 106 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0005g0300
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0003t0001g0120
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0196
a0002c0003t0001g0220
a0003c0005t0001g0028
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0008c0013t0001g0027
 108 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(105): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18951.hp1
NA18954.hp2
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18972.hp2
NA18979.hp1
NA18981.hp1
NA19004.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp2
NA19087.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+13639_302+1364
others(13): Show 
c.302+13639_302+13647dupTTTTTTTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232647643
chr2:232647643 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 14 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0265
others(11): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0265
a0001c0001t0003g0037
a0001c0001t0005g0297
a0001c0001t0005g0303
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0004t0001g0057
a0002c0002t0001g0046
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 14 HG01099.hp1
HG01106.hp2
HG01433.hp2
others(11): Show 
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG02109.hp2
HG02145.hp2
HG02559.hp2
HG02723.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03831.hp1
NA18522.hp2
NA18967.hp2
NA20805.hp1
 intron_variant MODIFIER c.302+13638_302+1364
others(14): Show 
c.302+13638_302+13647dupTTTTTTTTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232647643
chr2:232647879 C
C
 T
T
 20 a0001c0001t0001g0033
a0001c0001t0001g0172
a0001c0001t0003g0032
others(17): Show 
a0001c0001t0001g0033
a0001c0001t0001g0172
a0001c0001t0003g0032
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0002c0003t0001g0170
a0003c0005t0002g0015
 20 HG00323.hp1
HG01243.hp1
HG02055.hp1
others(17): Show 
HG00323.hp1
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02922.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
NA18942.hp2
NA18951.hp1
NA18972.hp2
NA18981.hp1
NA19030.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA21309.hp2
 intron_variant MODIFIER c.302+13873C>T
c.302+13873C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232647879
chr2:232647982 G
G
 A
A
 1 a0002c0003t0001g0165
a0002c0003t0001g0165
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.302+13976G>A
c.302+13976G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232647982
chr2:232648005 C
C
 T
T
 5 a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
others(2): Show 
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0023g0309
a0001c0004t0001g0182
 6 HG02886.hp1
HG03453.hp1
HG03471.hp1
others(3): Show 
HG02886.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
NA19240.hp1
 intron_variant MODIFIER c.302+13999C>T
c.302+13999C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648005
chr2:232648132 G
G
 A
A
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.302+14126G>A
c.302+14126G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648132
chr2:232648224 G
G
 A
A
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.302+14218G>A
c.302+14218G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648224
chr2:232648386 TGGGAGTG
others(1847): Show 
TGGGAGTGACTGTTTCCCAGCCCGCAGCTGGTTGGGCAGGAAGGAGGAGC
AGGTGATTTGACAGCTGGGGAGGACCCACCCAACCAGAGAAAACTAGAAA
CTCAGAGAACCTTGCAGGCAGGGATGTAGGGAGAGGGACTACAGTCCTGT
GACCTTAGGGAGTCTCCGAGGCTCATCTAGATAGGCACAGCTGGGGACAC
CCATAGGGTAACCCCAGGAGGGCCCCTGGGAAGACCACCTGCCGGTGGGT
GTAGTCTGTGCTGCCCTTCTCTGCCTTGAACGTGCCCAGGGGCTGTGGTG
TGGGGGGCTTGTGAACATGCAGGCTCTGATTCAGCAGGTCTAGGGGTCTC
GGTAGAACTTGAGACTGCATTTGTAACACTCCTGGGTGACCGTGATGCTC
TGGTCTGGGGACCTCACTTTGTGGGGCCAGCGCCTGGCTGTTGAAAAAGG
CAATGCGTGATTTCTATTCCAAGCCTTTCTGTGTGAAGAGAAGAAGGTAC
TCTTGTGTCCTGGTGTCCCTGAGATGCAGGCAACCCCCTCCCATCACTAA
GGCGTGTTCTGGGGCACTGCTACCCTCCTGAGAACACCCTATCTGAGAGA
TCCCTGGGGAGTTTCCAACAGCTGAACCTCTGGTGGACAAAGGCTGGCCA
GCTTCTTTTTCCATGAATGGCAGGATAATTCCTGGGAGGGAAGTTAGAAA
ACCAAGAAAGCCTGGGGCTCTCTGCACAGTGGAAGCCAAGAGAATAAGTG
ACTGACTCATGGACCTGAAACCGGGAGGACGCCGGAGACCAGCCATTGTC
CCTTGCTGCTGTCCTCTTGCTAGCTGGCCCTGGGTGGGGTTGGGGTCGGA
GTCACCTCGGGCCCTTTGGCGGATCTGGGGGCTTTCCCAGGCAGTGGGCA
CGCACAGCAGCAGATGGTCAAGCGGCCCACACAGTCACGCCTCACTCTAC
CGCTCAGTGGTGGCCTCAACTAGTAGATGAGTTGAGAAGCCTTTTCCAGG
AGACCTGGGGAGGCGGGCCTTATCCTCTGATAGGACTGGGCCCTAACAGT
CACTCAGGAATGGCTTTGTGGAGCGGTAGCACAGTGACCATGGCAGGTGG
CGGATTTGGGTTTTCCCCAGAAAGCTAAAGATGAGGCTGTCTGGGACAAG
TTGGGTGTGGGCAGCTTGTTAGAGTGGAAGCCCTGGGAACTGTCTGCTTC
CTCATGACCGCAGACAAGTGCTACTTTAAAAAAATAGCCTCCTCACCGAT
AGCTTACCTGGGCCTGTGTCCTGTGCAAGGGGATGATTTCCTTTGGGCCC
CTCGACCACTCTGCAAGGCACACAAGGCTCATGGCAGTCTCAAGTTACAG
ATGGGGCCAAGTCTCTCCCAAGAGGGTGGTGGGGCTGGTTTAGAATCTTT
CCAACTGCCAGTGGAACCAGAGTCTCCCCCTAACAGAGTCTGGAGACTAT
AAAGATGAAAGGGACTGAGCGTGGTGATACATGCCTGGAGTTCCAGCCAC
TTAGGAGGATCTCCTGAGCCCAAGAGTTCTGGGCTTTCTGGGGTCTGTGC
CCATCGGGTGCCCACACTGAGCTCAGCATCAATACGGTGACTTCCCAAGA
GGGGAGGTGGGGTTAGGGGGGATCACCAGGCTGCCTAAAGAGGGGTGAAC
TGGCCCGGGTCAGAAGCAGCAGGTCAAAACTCCCGTGCTGGTCAGCAGTG
GGATTGCTCCTGTGAATAGCCACTGCACTCCAGCCTGGGCAACATAGCGA
GGCCCTATCTCTAAAAAGTAACAATAGCAAAGATGAAAGGAACTGAGAAA
ATGGAAAATATGGGAAAAGGCCACAAGTCCACAAGGAAGCTCTAGGATGC
AAACA
 T
T
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.302+14384_303-1255
others(4): Show 
c.302+14384_303-12559del
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232648386
chr2:232648465 C
C
 A
A
 194 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(191): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 203 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(200): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-14337C>A
c.303-14337C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648465
chr2:232648643 G
G
 C
C
 2 a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0064
a0001c0004t0004g0065
 2 NA18972.hp2
NA19060.hp1
NA18972.hp2
NA19060.hp1
 intron_variant MODIFIER c.303-14159G>C
c.303-14159G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648643
chr2:232648672 C
C
 T
T
 3 a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
 3 HG02280.hp1
HG02886.hp2
HG06807.hp2
HG02280.hp1
HG02886.hp2
HG06807.hp2
 intron_variant MODIFIER c.303-14130C>T
c.303-14130C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648672
chr2:232648687 G
G
 T
T
 5 a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0357
others(2): Show 
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0357
a0001c0001t0007g0290
a0001c0001t0011g0038
 5 HG02145.hp1
HG02257.hp1
HG02572.hp2
others(2): Show 
HG02145.hp1
HG02257.hp1
HG02572.hp2
HG03516.hp1
HG03579.hp2
 intron_variant MODIFIER c.303-14115G>T
c.303-14115G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648687
chr2:232648727 A
A
 G
G
 2 a0001c0001t0001g0019
a0001c0001t0001g0265
a0001c0001t0001g0019
a0001c0001t0001g0265
 2 HG03540.hp1
NA20300.hp2
HG03540.hp1
NA20300.hp2
 intron_variant MODIFIER c.303-14075A>G
c.303-14075A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648727
chr2:232648788 G
G
 A
A
 1 a0001c0004t0006g0191
a0001c0004t0006g0191
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.303-14014G>A
c.303-14014G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648788
chr2:232648849 C
C
 G
G
 5 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0001g0047
 5 HG00544.hp2
HG02300.hp1
NA18951.hp2
others(2): Show 
HG00544.hp2
HG02300.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.303-13953C>G
c.303-13953C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648849
chr2:232648947 G
G
 A
A
 1 a0002c0002t0001g0201
a0002c0002t0001g0201
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.303-13855G>A
c.303-13855G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232648947
chr2:232649030 T
T
 C
C
 1 a0001c0001t0006g0097
a0001c0001t0006g0097
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.303-13772T>C
c.303-13772T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649030
chr2:232649032 G
G
 T
T
 1 a0001c0001t0003g0248
a0001c0001t0003g0248
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.303-13770G>T
c.303-13770G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649032
chr2:232649144 A
A
 G
G
 1 a0002c0002t0001g0255
a0002c0002t0001g0255
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.303-13658A>G
c.303-13658A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649144
chr2:232649165 C
C
 T
T
 6 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(3): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
a0006c0012t0001g0100
 6 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(3): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
NA18941.hp1
 intron_variant MODIFIER c.303-13637C>T
c.303-13637C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649165
chr2:232649237 T
T
 C
C
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.303-13565T>C
c.303-13565T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649237
chr2:232649243 C
C
 T
T
 6 a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
others(3): Show 
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0006t0005g0288
a0002c0002t0022g0263
 6 HG01891.hp1
HG02257.hp2
HG02451.hp2
others(3): Show 
HG01891.hp1
HG02257.hp2
HG02451.hp2
NA18522.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.303-13559C>T
c.303-13559C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649243
chr2:232649256 G
G
 A
A
 32 a0001c0001t0001g0033
a0001c0001t0001g0308
a0001c0001t0001g0356
others(29): Show 
a0001c0001t0001g0033
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0032
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0003t0001g0120
a0003c0005t0001g0028
a0003c0005t0006g0259
a0008c0013t0001g0027
 32 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(29): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG01243.hp1
HG02055.hp1
HG02145.hp1
HG02257.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02683.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.303-13546G>A
c.303-13546G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649256
chr2:232649308 C
C
 T
T
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.303-13494C>T
c.303-13494C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649308
chr2:232649531 A
A
 G
G
 1 a0001c0001t0011g0038
a0001c0001t0011g0038
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.303-13271A>G
c.303-13271A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649531
chr2:232649599 A
A
 G
G
 20 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0048
others(17): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0003g0037
a0001c0001t0005g0297
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0004t0001g0057
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0155
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 20 HG00544.hp2
HG01099.hp1
HG01106.hp2
others(17): Show 
HG00544.hp2
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp1
HG02559.hp2
HG02723.hp1
HG03486.hp1
HG03490.hp1
HG03831.hp1
NA18522.hp2
NA18951.hp2
NA18954.hp2
NA18966.hp1
NA18967.hp2
NA18997.hp1
NA18999.hp1
NA19064.hp2
 intron_variant MODIFIER c.303-13203A>G
c.303-13203A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649599
chr2:232649926 G
G
 T
T
 210 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(207): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 221 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(218): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-12876G>T
c.303-12876G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649926
chr2:232649928 G
G
 C
C
 204 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(201): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 215 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(212): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-12874G>C
c.303-12874G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232649928
chr2:232650042 G
G
 A
A
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.303-12760G>A
c.303-12760G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650042
chr2:232650104 G
G
 A
A
 5 a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0357
others(2): Show 
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0357
a0001c0001t0007g0290
a0001c0001t0011g0038
 5 HG02145.hp1
HG02257.hp1
HG02572.hp2
others(2): Show 
HG02145.hp1
HG02257.hp1
HG02572.hp2
HG03516.hp1
HG03579.hp2
 intron_variant MODIFIER c.303-12698G>A
c.303-12698G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650104
chr2:232650291 C
C
 CT
CT
 24 a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0003g0270
others(21): Show 
a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0003g0270
a0001c0001t0005g0286
a0001c0001t0007g0296
a0001c0001t0007g0305
a0001c0001t0008g0285
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0298
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0002c0002t0022g0263
a0002c0003t0001g0088
a0002c0003t0001g0125
a0002c0003t0001g0189
a0002c0003t0019g0129
 24 HG01891.hp1
HG02135.hp2
HG02293.hp2
others(21): Show 
HG01891.hp1
HG02135.hp2
HG02293.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02895.hp1
HG02897.hp1
HG03130.hp1
HG03209.hp2
HG03704.hp2
NA18522.hp1
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18975.hp2
NA18979.hp1
NA19081.hp1
NA19084.hp2
NA20129.hp1
 intron_variant MODIFIER c.303-12491dupT
c.303-12491dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232650291
chr2:232650291 CT
CT
 C
C
 28 a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
others(25): Show 
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0002g0324
a0001c0001t0003g0307
a0001c0001t0012g0351
a0001c0004t0003g0061
a0001c0004t0004g0163
a0001c0004t0004g0168
a0001c0004t0004g0171
a0002c0002t0001g0047
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0229
a0002c0002t0001g0254
a0002c0002t0001g0345
a0002c0002t0005g0284
a0002c0003t0001g0090
a0002c0003t0001g0091
a0003c0005t0002g0015
a0003c0005t0006g0259
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
 28 HG00099.hp1
HG00140.hp1
HG00323.hp1
others(25): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp2
HG01099.hp2
HG01433.hp2
HG01975.hp2
HG02300.hp1
HG02683.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03540.hp2
NA18522.hp2
NA18942.hp1
NA18951.hp2
NA18957.hp2
NA18962.hp2
NA18986.hp1
NA18997.hp1
NA18999.hp1
NA19056.hp1
NA19065.hp1
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.303-12491delT
c.303-12491delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232650291
chr2:232650397 C
C
 T
T
 2 a0003c0005t0001g0028
a0008c0013t0001g0027
a0003c0005t0001g0028
a0008c0013t0001g0027
 2 HG02683.hp2
NA20905.hp1
HG02683.hp2
NA20905.hp1
 intron_variant MODIFIER c.303-12405C>T
c.303-12405C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650397
chr2:232650537 A
A
 G
G
 202 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(199): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-12265A>G
c.303-12265A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650537
chr2:232650559 G
G
 GCTGAGAT
others(29): Show 
GCTGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGC
 33 a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
others(30): Show 
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0265
a0001c0001t0001g0356
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0247
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0005g0286
a0001c0001t0007g0290
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0001t0016g0216
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0003g0190
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0046
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0022g0263
a0002c0003t0001g0120
a0002c0003t0001g0220
 33 HG01109.hp1
HG01361.hp1
HG01891.hp1
others(30): Show 
HG01109.hp1
HG01361.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02622.hp1
HG02647.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
NA18522.hp1
NA18967.hp2
NA18979.hp1
NA18998.hp1
NA19043.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.303-12241_303-1224
others(40): Show 
c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC
CCAGCTGCCT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232650559
chr2:232650560 C
C
 CT
CT
 29 a0001c0001t0002g0153
a0001c0001t0002g0181
a0001c0001t0002g0341
others(26): Show 
a0001c0001t0002g0153
a0001c0001t0002g0181
a0001c0001t0002g0341
a0001c0001t0002g0355
a0001c0001t0003g0360
a0001c0001t0004g0158
a0001c0001t0004g0320
a0001c0004t0001g0223
a0001c0004t0002g0016
a0001c0004t0002g0149
a0001c0004t0003g0063
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0152
a0001c0004t0004g0230
a0002c0002t0001g0011
a0002c0002t0001g0106
a0002c0002t0001g0180
a0002c0002t0001g0342
a0002c0003t0001g0067
a0002c0003t0001g0073
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0159
a0002c0003t0001g0162
a0002c0003t0001g0261
 30 HG00408.hp2
HG00423.hp1
HG00423.hp2
others(27): Show 
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00597.hp1
HG00609.hp1
HG00642.hp2
HG00741.hp2
HG01106.hp1
HG01175.hp1
HG01981.hp1
HG02027.hp1
HG02148.hp2
HG02523.hp2
HG02559.hp1
HG02738.hp1
NA18747.hp2
NA18939.hp1
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18971.hp1
NA18972.hp1
NA18997.hp2
NA19000.hp1
NA19000.hp2
NA19055.hp1
NA19064.hp1
NA19068.hp1
NA19083.hp2
NA19087.hp1
 intron_variant MODIFIER c.303-12216dupT
c.303-12216dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232650560
chr2:232650560 C
C
 CTGAGATT
others(30): Show 
CTGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCCT
 13 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(10): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0308
a0001c0001t0005g0364
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0007g0296
a0001c0001t0011g0038
a0002c0002t0001g0047
a0003c0005t0006g0058
 13 HG00544.hp2
HG01109.hp2
HG01891.hp2
others(10): Show 
HG00544.hp2
HG01109.hp2
HG01891.hp2
HG02258.hp2
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02922.hp2
HG03516.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.303-12241_303-1224
others(41): Show 
c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC
CCAGCTGCCTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232650560
chr2:232650560 C
C
 CTGAGATT
others(31): Show 
CTGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCCTT
 1 a0001c0001t0021g0272
a0001c0001t0021g0272
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.303-12241_303-1224
others(42): Show 
c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC
CCAGCTGCCTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232650560
chr2:232650560 CT
CT
 C
C
 7 a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0004t0001g0156
others(4): Show 
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0004t0001g0156
a0001c0004t0003g0061
a0002c0002t0001g0173
a0002c0003t0001g0121
a0002c0003t0001g0137
 7 HG02965.hp2
HG03834.hp2
NA18948.hp1
others(4): Show 
HG02965.hp2
HG03834.hp2
NA18948.hp1
NA18962.hp2
NA18986.hp2
NA19062.hp2
NA19091.hp1
 intron_variant MODIFIER c.303-12216delT
c.303-12216delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232650560
chr2:232650561 T
T
 TGAGATTG
others(26): Show 
TGAGATTGCAGGCGTGAGCCACCATGCCCAGCTG
 3 a0001c0001t0001g0172
a0001c0004t0004g0169
a0003c0005t0002g0015
a0001c0001t0001g0172
a0001c0004t0004g0169
a0003c0005t0002g0015
 3 HG03041.hp1
HG03139.hp1
NA18942.hp2
HG03041.hp1
HG03139.hp1
NA18942.hp2
 intron_variant MODIFIER c.303-12241_303-1224
others(37): Show 
c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC
CCAGCTG
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650561
chr2:232650561 T
T
 TGAGATTG
others(27): Show 
TGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGC
 25 a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
others(22): Show 
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0171
a0001c0004t0006g0041
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0005g0302
a0002c0002t0017g0311
a0002c0003t0001g0091
a0002c0003t0001g0170
a0008c0013t0001g0027
 25 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(22): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG01175.hp2
HG01975.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG03239.hp1
NA18942.hp1
NA18951.hp1
NA18972.hp2
NA18981.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-12241_303-1224
others(38): Show 
c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC
CCAGCTGC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650561
chr2:232650561 T
T
 TGAGATTG
others(28): Show 
TGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCC
 135 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
others(132): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0295
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0294
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0224
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0201
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0015g0313
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
 146 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19089.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.303-12241_303-1224
others(39): Show 
c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC
CCAGCTGCC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650561
chr2:232650562 T
T
 A
A
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.303-12240T>A
c.303-12240T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650562
chr2:232650562 T
T
 C
C
 28 a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
others(25): Show 
a0001c0001t0001g0172
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0006g0041
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0005g0302
a0002c0002t0017g0311
a0002c0003t0001g0091
a0002c0003t0001g0170
a0003c0005t0002g0015
a0008c0013t0001g0027
 28 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(25): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG01175.hp2
HG01975.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG03041.hp1
HG03139.hp1
HG03239.hp1
NA18942.hp1
NA18942.hp2
NA18951.hp1
NA18972.hp2
NA18981.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-12240T>C
c.303-12240T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650562
chr2:232650563 T
T
 C
C
 3 a0001c0001t0001g0172
a0001c0004t0004g0169
a0003c0005t0002g0015
a0001c0001t0001g0172
a0001c0004t0004g0169
a0003c0005t0002g0015
 3 HG03041.hp1
HG03139.hp1
NA18942.hp2
HG03041.hp1
HG03139.hp1
NA18942.hp2
 intron_variant MODIFIER c.303-12239T>C
c.303-12239T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650563
chr2:232650564 T
T
 TGCAGGCG
others(22): Show 
TGCAGGCGTGAGCCACCATGCCCAGCTGCC
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.303-12238_303-1223
others(33): Show 
c.303-12238_303-12237insGCAGGCGTGAGCCACCATGCCCAGCT
GCC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650564
chr2:232650582 T
T
 C
C
 8 a0001c0001t0001g0315
a0001c0001t0004g0359
a0002c0002t0001g0314
others(5): Show 
a0001c0001t0001g0315
a0001c0001t0004g0359
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0003t0001g0059
 8 HG00544.hp1
HG02027.hp2
HG02083.hp2
others(5): Show 
HG00544.hp1
HG02027.hp2
HG02083.hp2
HG02523.hp1
NA18994.hp2
NA19010.hp2
NA19062.hp1
NA19083.hp1
 intron_variant MODIFIER c.303-12220T>C
c.303-12220T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650582
chr2:232650603 C
C
 T
T
 1 a0002c0002t0001g0213
a0002c0002t0001g0213
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.303-12199C>T
c.303-12199C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650603
chr2:232650631 C
C
 T
T
 1 a0001c0001t0003g0266
a0001c0001t0003g0266
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.303-12171C>T
c.303-12171C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650631
chr2:232650870 A
A
 G
G
 2 a0001c0001t0001g0172
a0003c0005t0002g0015
a0001c0001t0001g0172
a0003c0005t0002g0015
 2 HG03041.hp1
HG03139.hp1
HG03041.hp1
HG03139.hp1
 intron_variant MODIFIER c.303-11932A>G
c.303-11932A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650870
chr2:232650915 C
C
 T
T
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.303-11887C>T
c.303-11887C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232650915
chr2:232651037 C
C
 G
G
 25 a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
others(22): Show 
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0005g0302
a0002c0003t0001g0170
a0003c0005t0001g0028
a0008c0013t0001g0027
 25 HG00280.hp1
HG00323.hp1
HG00642.hp1
others(22): Show 
HG00280.hp1
HG00323.hp1
HG00642.hp1
HG01175.hp2
HG02683.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG03239.hp1
HG03669.hp2
NA18906.hp2
NA18942.hp2
NA18951.hp1
NA18972.hp2
NA18981.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19085.hp2
NA19087.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-11765C>G
c.303-11765C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232651037
chr2:232651058 A
A
 AGG
AGG
 6 a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
others(3): Show 
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0007g0296
a0001c0001t0010g0298
a0002c0003t0001g0120
 6 HG02572.hp1
HG02976.hp1
HG03139.hp2
others(3): Show 
HG02572.hp1
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
 intron_variant MODIFIER c.303-11742_303-1174
others(6): Show 
c.303-11742_303-11741dupGG
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232651058
chr2:232651105 C
C
 G
G
 5 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(2): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0001g0047
 5 HG00544.hp2
HG02300.hp1
NA18951.hp2
others(2): Show 
HG00544.hp2
HG02300.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.303-11697C>G
c.303-11697C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232651105
chr2:232651244 G
G
 T
T
 14 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0003g0037
others(11): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0003g0037
a0001c0001t0005g0297
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0004t0001g0057
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 14 HG01099.hp1
HG01106.hp2
HG01433.hp2
others(11): Show 
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG02109.hp2
HG02145.hp2
HG02559.hp2
HG02723.hp1
HG03486.hp1
HG03490.hp1
HG03831.hp1
NA18522.hp2
NA18954.hp2
NA18966.hp1
NA18967.hp2
 intron_variant MODIFIER c.303-11558G>T
c.303-11558G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232651244
chr2:232651259 C
C
 T
T
 1 a0001c0001t0004g0320
a0001c0001t0004g0320
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.303-11543C>T
c.303-11543C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232651259
chr2:232651587 C
C
 G
G
 121 a0001c0001t0001g0024
a0001c0001t0001g0194
a0001c0001t0001g0315
others(118): Show 
a0001c0001t0001g0024
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0359
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0126
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0002g0015
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 129 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp2
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.303-11215C>G
c.303-11215C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232651587
chr2:232651798 G
G
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0265
a0001c0001t0001g0019
a0001c0001t0001g0265
 2 HG03540.hp1
NA20300.hp2
HG03540.hp1
NA20300.hp2
 intron_variant MODIFIER c.303-11004G>A
c.303-11004G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232651798
chr2:232651824 A
A
 AAAAC
AAAAC
 169 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
others(166): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0304
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0016g0216
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-10970_303-1096
others(8): Show 
c.303-10970_303-10967dupCAAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232651824
chr2:232651944 C
C
 CCT
CCT
 212 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(209): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0126
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 223 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(220): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19065.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-10857_303-1085
others(6): Show 
c.303-10857_303-10856dupCT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232651944
chr2:232652319 T
T
 C
C
 3 a0001c0001t0006g0269
a0001c0004t0006g0191
a0002c0002t0001g0280
a0001c0001t0006g0269
a0001c0004t0006g0191
a0002c0002t0001g0280
 3 HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
 intron_variant MODIFIER c.303-10483T>C
c.303-10483T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232652319
chr2:232652470 C
C
 A
A
 9 a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0134
others(6): Show 
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0134
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
 9 HG00558.hp1
HG02040.hp1
HG02040.hp2
others(6): Show 
HG00558.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02132.hp1
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA19086.hp1
 intron_variant MODIFIER c.303-10332C>A
c.303-10332C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232652470
chr2:232652525 A
A
 T
T
 1 a0002c0003t0001g0165
a0002c0003t0001g0165
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.303-10277A>T
c.303-10277A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232652525
chr2:232652635 A
A
 C
C
 1 a0001c0001t0005g0264
a0001c0001t0005g0264
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.303-10167A>C
c.303-10167A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232652635
chr2:232652693 C
C
 T
T
 1 a0003c0005t0011g0023
a0003c0005t0011g0023
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.303-10109C>T
c.303-10109C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232652693
chr2:232652991 G
G
 T
T
 187 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(184): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 198 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(195): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-9811G>T
c.303-9811G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232652991
chr2:232653017 C
C
 T
T
 1 a0002c0003t0001g0091
a0002c0003t0001g0091
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.303-9785C>T
c.303-9785C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653017
chr2:232653062 C
C
 T
T
 104 a0001c0001t0001g0024
a0001c0001t0001g0194
a0001c0001t0002g0200
others(101): Show 
a0001c0001t0001g0024
a0001c0001t0001g0194
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0006g0361
a0001c0001t0009g0271
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 112 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(109): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.303-9740C>T
c.303-9740C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653062
chr2:232653076 C
C
 T
T
 14 a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
others(11): Show 
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0005g0302
a0002c0003t0001g0170
a0003c0005t0001g0028
a0008c0013t0001g0027
 14 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(11): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG02683.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG03239.hp1
HG03669.hp2
NA18906.hp2
NA19030.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-9726C>T
c.303-9726C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653076
chr2:232653089 G
G
 A
A
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.303-9713G>A
c.303-9713G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653089
chr2:232653151 G
G
 A
A
 2 a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0318
a0002c0002t0001g0327
 2 NA19056.hp2
NA19085.hp1
NA19056.hp2
NA19085.hp1
 intron_variant MODIFIER c.303-9651G>A
c.303-9651G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653151
chr2:232653159 A
A
 C
C
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.303-9643A>C
c.303-9643A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653159
chr2:232653208 G
G
 A
A
 3 a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0001g0024
a0001c0001t0006g0025
a0001c0001t0006g0026
 3 HG02280.hp1
HG02886.hp2
HG06807.hp2
HG02280.hp1
HG02886.hp2
HG06807.hp2
 intron_variant MODIFIER c.303-9594G>A
c.303-9594G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653208
chr2:232653299 T
T
 A
A
 2 a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0002g0367
a0001c0001t0002g0368
 2 HG01496.hp2
HG01952.hp2
HG01496.hp2
HG01952.hp2
 intron_variant MODIFIER c.303-9503T>A
c.303-9503T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653299
chr2:232653319 C
C
 G
G
 1 a0001c0004t0003g0061
a0001c0004t0003g0061
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.303-9483C>G
c.303-9483C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653319
chr2:232653330 G
G
 A
A
 6 a0001c0001t0003g0239
a0001c0001t0006g0035
a0001c0001t0006g0097
others(3): Show 
a0001c0001t0003g0239
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 6 HG01109.hp2
HG02258.hp2
HG02602.hp2
others(3): Show 
HG01109.hp2
HG02258.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.303-9472G>A
c.303-9472G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653330
chr2:232653488 A
A
 G
G
 14 a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
others(11): Show 
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0005g0302
a0002c0003t0001g0170
a0003c0005t0001g0028
a0008c0013t0001g0027
 14 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(11): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG02683.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG03239.hp1
HG03669.hp2
NA18906.hp2
NA19030.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-9314A>G
c.303-9314A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653488
chr2:232653493 G
G
 A
A
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.303-9309G>A
c.303-9309G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653493
chr2:232653541 C
C
 T
T
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.303-9261C>T
c.303-9261C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653541
chr2:232653585 C
C
 T
T
 1 a0001c0001t0023g0309
a0001c0001t0023g0309
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.303-9217C>T
c.303-9217C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653585
chr2:232653676 T
T
 C
C
 7 a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0185
others(4): Show 
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
 7 NA18939.hp2
NA18944.hp1
NA18945.hp2
others(4): Show 
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18960.hp1
NA18979.hp1
NA19081.hp1
 intron_variant MODIFIER c.303-9126T>C
c.303-9126T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653676
chr2:232653705 G
G
 A
A
 2 a0001c0001t0007g0002
a0001c0001t0007g0295
a0001c0001t0007g0002
a0001c0001t0007g0295
 4 HG02280.hp2
HG02809.hp1
HG03453.hp2
others(1): Show 
HG02280.hp2
HG02809.hp1
HG03453.hp2
HG03486.hp2
 intron_variant MODIFIER c.303-9097G>A
c.303-9097G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653705
chr2:232653934 C
C
 T
T
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.303-8868C>T
c.303-8868C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653934
chr2:232653972 C
C
 A
A
 1 a0002c0003t0001g0091
a0002c0003t0001g0091
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.303-8830C>A
c.303-8830C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653972
chr2:232653982 A
A
 C
C
 11 a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
others(8): Show 
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0002c0003t0001g0189
 11 HG02135.hp2
NA18939.hp2
NA18944.hp1
others(8): Show 
HG02135.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
NA19084.hp2
 intron_variant MODIFIER c.303-8820A>C
c.303-8820A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232653982
chr2:232654004 C
C
 T
T
 1 a0002c0002t0001g0279
a0002c0002t0001g0279
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.303-8798C>T
c.303-8798C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654004
chr2:232654024 T
T
 G
G
 132 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
others(129): Show 
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0304
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0016g0216
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0028
a0003c0005t0002g0015
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
a0008c0013t0001g0027
 140 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(137): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-8778T>G
c.303-8778T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654024
chr2:232654206 C
C
 CA
CA
 10 a0001c0001t0001g0077
a0001c0001t0003g0032
a0001c0001t0003g0037
others(7): Show 
a0001c0001t0001g0077
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0005g0264
a0001c0001t0010g0298
a0001c0004t0002g0136
a0002c0002t0001g0175
 10 HG00140.hp2
HG00280.hp2
HG01346.hp1
others(7): Show 
HG00140.hp2
HG00280.hp2
HG01346.hp1
HG02145.hp2
HG02976.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.303-8580dupA
c.303-8580dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232654206
chr2:232654224 A
A
 G
G
 2 a0001c0001t0001g0265
a0001c0001t0013g0039
a0001c0001t0001g0265
a0001c0001t0013g0039
 2 HG03195.hp1
HG03540.hp1
HG03195.hp1
HG03540.hp1
 intron_variant MODIFIER c.303-8578A>G
c.303-8578A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654224
chr2:232654305 C
C
 T
T
 1 a0001c0001t0005g0300
a0001c0001t0005g0300
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.303-8497C>T
c.303-8497C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654305
chr2:232654375 G
G
 A
A
 23 a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
others(20): Show 
a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0315
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0005g0264
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0007g0296
a0001c0001t0010g0298
a0001c0001t0021g0272
a0001c0004t0004g0081
a0001c0004t0004g0171
a0002c0002t0001g0047
a0002c0003t0001g0120
a0003c0005t0006g0058
 23 HG00323.hp1
HG00544.hp2
HG01109.hp2
others(20): Show 
HG00323.hp1
HG00544.hp2
HG01109.hp2
HG02083.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
NA18951.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
NA19030.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.303-8427G>A
c.303-8427G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654375
chr2:232654416 C
C
 CT
CT
 54 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
others(51): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0172
a0001c0001t0001g0308
a0001c0001t0002g0219
a0001c0001t0002g0326
a0001c0001t0003g0307
a0001c0001t0005g0282
a0001c0001t0005g0297
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0361
a0001c0001t0008g0289
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0016g0216
a0001c0004t0001g0057
a0001c0004t0002g0016
a0001c0004t0002g0095
a0001c0004t0003g0063
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0006g0009
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0055
a0002c0002t0001g0148
a0002c0002t0001g0226
a0002c0002t0001g0317
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0068
a0002c0003t0001g0075
a0002c0003t0001g0087
a0002c0003t0001g0091
a0002c0003t0001g0096
a0002c0003t0001g0154
a0002c0003t0001g0189
a0002c0003t0001g0220
a0002c0003t0001g0261
a0003c0005t0001g0021
a0003c0005t0002g0015
a0003c0005t0011g0023
 56 HG00642.hp2
HG01099.hp1
HG01106.hp2
others(53): Show 
HG00642.hp2
HG01099.hp1
HG01106.hp2
HG01891.hp1
HG01891.hp2
HG02027.hp1
HG02027.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp1
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18959.hp1
NA18960.hp1
NA18975.hp1
NA18979.hp1
NA18990.hp2
NA18997.hp2
NA18999.hp2
NA19003.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19062.hp2
NA19064.hp1
NA19084.hp1
NA19084.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.303-8364dupT
c.303-8364dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232654416
chr2:232654416 C
C
 CTT
CTT
 53 a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
others(50): Show 
a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0315
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0097
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0008g0287
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0021g0272
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0188
a0001c0004t0006g0041
a0002c0002t0001g0047
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0003t0001g0170
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0006g0058
a0005c0008t0001g0022
 55 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(52): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00544.hp2
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG03098.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG03831.hp1
HG04228.hp1
NA18951.hp2
NA19030.hp2
NA19081.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-8365_303-8364d
others(4): Show 
c.303-8365_303-8364dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232654416
chr2:232654416 C
C
 CTTT
CTTT
 17 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0265
others(14): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0265
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0005g0264
a0001c0001t0006g0035
a0001c0001t0006g0098
a0001c0001t0007g0304
a0001c0001t0010g0298
a0001c0001t0013g0039
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0005g0302
a0002c0003t0001g0120
a0008c0013t0001g0027
 17 HG00642.hp1
HG01109.hp2
HG01175.hp2
others(14): Show 
HG00642.hp1
HG01109.hp2
HG01175.hp2
HG02622.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03540.hp1
HG03669.hp2
NA18906.hp2
NA18997.hp1
NA18999.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.303-8366_303-8364d
others(5): Show 
c.303-8366_303-8364dupTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232654416
chr2:232654416 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 5 a0001c0001t0001g0033
a0001c0001t0004g0031
a0001c0001t0006g0030
others(2): Show 
a0001c0001t0001g0033
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0008g0283
 5 HG01243.hp1
HG02055.hp1
HG02615.hp1
others(2): Show 
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02922.hp1
HG03471.hp2
 intron_variant MODIFIER c.303-8375_303-8364d
others(14): Show 
c.303-8375_303-8364delTTTTTTTTTTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232654416
chr2:232654420 T
T
 C
C
 2 a0001c0001t0007g0291
a0002c0002t0005g0292
a0001c0001t0007g0291
a0002c0002t0005g0292
 2 HG01884.hp1
HG02723.hp2
HG01884.hp1
HG02723.hp2
 intron_variant MODIFIER c.303-8382T>C
c.303-8382T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654420
chr2:232654457 G
G
 T
T
 36 a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
others(33): Show 
a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0315
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0005g0264
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0013g0039
a0001c0001t0021g0272
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0001g0047
a0002c0002t0005g0302
a0002c0003t0001g0120
a0002c0003t0001g0170
a0003c0005t0001g0028
a0003c0005t0006g0058
a0008c0013t0001g0027
 36 HG00280.hp1
HG00544.hp2
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00544.hp2
HG00642.hp1
HG01109.hp2
HG01175.hp2
HG02083.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03669.hp2
NA18906.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-8345G>T
c.303-8345G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654457
chr2:232654534 C
C
 T
T
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.303-8268C>T
c.303-8268C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654534
chr2:232654575 C
C
 T
T
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.303-8227C>T
c.303-8227C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654575
chr2:232654638 G
G
 C
C
 1 a0001c0004t0004g0169
a0001c0004t0004g0169
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.303-8164G>C
c.303-8164G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654638
chr2:232654696 G
G
 C
C
 23 a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
others(20): Show 
a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0005g0264
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0007g0296
a0001c0001t0010g0298
a0001c0001t0013g0039
a0001c0001t0021g0272
a0002c0002t0001g0047
a0002c0003t0001g0120
a0003c0005t0006g0058
 23 HG00544.hp2
HG01109.hp2
HG02083.hp2
others(20): Show 
HG00544.hp2
HG01109.hp2
HG02083.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03540.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
NA19030.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.303-8106G>C
c.303-8106G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654696
chr2:232654850 G
G
 A
A
 6 a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0004t0006g0041
others(3): Show 
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0004t0006g0041
a0001c0004t0006g0042
a0002c0002t0005g0284
a0002c0003t0001g0170
 6 HG02809.hp2
HG02895.hp2
HG02897.hp2
others(3): Show 
HG02809.hp2
HG02895.hp2
HG02897.hp2
NA18906.hp2
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-7952G>A
c.303-7952G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654850
chr2:232654892 C
C
 A
A
 1 a0001c0006t0005g0366
a0001c0006t0005g0366
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.303-7910C>A
c.303-7910C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654892
chr2:232654915 C
C
 T
T
 1 a0002c0002t0001g0340
a0002c0002t0001g0340
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.303-7887C>T
c.303-7887C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232654915
chr2:232655053 C
C
 T
T
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.303-7749C>T
c.303-7749C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655053
chr2:232655259 GTCC
GTCC
 G
G
 4 a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0007g0290
others(1): Show 
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0007g0290
a0001c0001t0011g0038
 4 HG02257.hp1
HG02572.hp2
HG03516.hp1
others(1): Show 
HG02257.hp1
HG02572.hp2
HG03516.hp1
HG03579.hp2
 intron_variant MODIFIER c.303-7538_303-7536d
others(5): Show 
c.303-7538_303-7536delCCT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232655259
chr2:232655263 T
T
 A
A
 4 a0001c0001t0003g0307
a0001c0001t0016g0216
a0001c0004t0002g0262
others(1): Show 
a0001c0001t0003g0307
a0001c0001t0016g0216
a0001c0004t0002g0262
a0002c0003t0001g0220
 4 HG02109.hp1
HG02976.hp2
HG03098.hp2
others(1): Show 
HG02109.hp1
HG02976.hp2
HG03098.hp2
NA19043.hp2
 intron_variant MODIFIER c.303-7539T>A
c.303-7539T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655263
chr2:232655510 G
G
 A
A
 8 a0001c0001t0001g0172
a0001c0001t0005g0364
a0001c0006t0001g0034
others(5): Show 
a0001c0001t0001g0172
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0003c0005t0002g0015
 8 HG01891.hp2
HG02965.hp1
HG03041.hp1
others(5): Show 
HG01891.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.303-7292G>A
c.303-7292G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655510
chr2:232655544 A
A
 T
T
 185 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(182): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0004g0031
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 193 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(190): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-7258A>T
c.303-7258A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655544
chr2:232655664 T
T
 G
G
 1 a0001c0004t0002g0113
a0001c0004t0002g0113
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.303-7138T>G
c.303-7138T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655664
chr2:232655669 A
A
 G
G
 138 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
others(135): Show 
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0286
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0304
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0016g0216
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0028
a0003c0005t0002g0015
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
a0008c0013t0001g0027
 146 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-7133A>G
c.303-7133A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655669
chr2:232655745 A
A
 G
G
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.303-7057A>G
c.303-7057A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655745
chr2:232655802 C
C
 CT
CT
 12 a0001c0001t0002g0322
a0001c0001t0002g0339
a0001c0001t0003g0228
others(9): Show 
a0001c0001t0002g0322
a0001c0001t0002g0339
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0005g0264
a0001c0001t0007g0296
a0001c0001t0010g0298
a0001c0001t0013g0039
a0001c0004t0002g0127
a0002c0002t0001g0345
a0002c0003t0001g0073
 12 HG01975.hp2
HG02572.hp1
HG02976.hp1
others(9): Show 
HG01975.hp2
HG02572.hp1
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
NA18960.hp2
NA18994.hp1
NA19012.hp2
NA19068.hp1
NA20129.hp2
 intron_variant MODIFIER c.303-6978dupT
c.303-6978dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232655802
chr2:232655802 C
C
 CTT
CTT
 9 a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0006g0035
others(6): Show 
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0002c0002t0001g0233
a0002c0003t0001g0126
a0003c0005t0006g0058
 9 HG00735.hp2
HG01109.hp2
HG02145.hp2
others(6): Show 
HG00735.hp2
HG01109.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
NA19030.hp1
 intron_variant MODIFIER c.303-6979_303-6978d
others(4): Show 
c.303-6979_303-6978dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232655802
chr2:232655802 CT
CT
 C
C
 21 a0001c0001t0001g0033
a0001c0001t0001g0308
a0001c0001t0001g0356
others(18): Show 
a0001c0001t0001g0033
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0270
a0001c0001t0004g0031
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0007g0290
a0001c0001t0008g0283
a0001c0001t0011g0038
a0001c0001t0023g0309
a0001c0004t0001g0182
a0001c0004t0004g0169
a0002c0002t0005g0284
a0002c0002t0022g0263
a0002c0003t0001g0121
a0003c0005t0006g0259
 22 HG01243.hp1
HG02055.hp1
HG02257.hp1
others(19): Show 
HG01243.hp1
HG02055.hp1
HG02257.hp1
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02809.hp2
HG02886.hp1
HG02897.hp1
HG02922.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18942.hp2
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.303-6978delT
c.303-6978delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232655802
chr2:232655802 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 133 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
others(130): Show 
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0304
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0016g0216
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0028
a0003c0005t0002g0015
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
a0008c0013t0001g0027
 141 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(138): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-6988_303-6978d
others(13): Show 
c.303-6988_303-6978delTTTTTTTTTTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232655802
chr2:232655808 T
T
 TC
TC
 5 a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
others(2): Show 
a0001c0001t0005g0286
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0002c0003t0001g0120
 5 HG01891.hp1
HG02257.hp2
HG02451.hp2
others(2): Show 
HG01891.hp1
HG02257.hp2
HG02451.hp2
HG03139.hp2
NA20129.hp1
 intron_variant MODIFIER c.303-6994_303-6993i
others(3): Show 
c.303-6994_303-6993insC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655808
chr2:232655869 C
C
 T
T
 68 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(65): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0194
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0006g0361
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0003g0094
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0047
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0255
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
 74 HG00099.hp1
HG00323.hp2
HG00544.hp1
others(71): Show 
HG00099.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01167.hp2
HG01975.hp1
HG02027.hp2
HG02056.hp2
HG02083.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02300.hp1
HG02602.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG03225.hp2
HG03492.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18948.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19009.hp2
NA19010.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.303-6933C>T
c.303-6933C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655869
chr2:232655986 T
T
 C
C
 14 a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
others(11): Show 
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0005g0302
a0002c0003t0001g0170
a0003c0005t0001g0028
a0008c0013t0001g0027
 14 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(11): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG02683.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG03239.hp1
HG03669.hp2
NA18906.hp2
NA19030.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-6816T>C
c.303-6816T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232655986
chr2:232656057 C
C
 T
T
 4 a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0007g0290
others(1): Show 
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0007g0290
a0001c0001t0011g0038
 4 HG02257.hp1
HG02572.hp2
HG03516.hp1
others(1): Show 
HG02257.hp1
HG02572.hp2
HG03516.hp1
HG03579.hp2
 intron_variant MODIFIER c.303-6745C>T
c.303-6745C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656057
chr2:232656058 G
G
 C
C
 1 a0001c0004t0004g0230
a0001c0004t0004g0230
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.303-6744G>C
c.303-6744G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656058
chr2:232656184 C
C
 T
T
 2 a0001c0001t0006g0097
a0001c0001t0021g0272
a0001c0001t0006g0097
a0001c0001t0021g0272
 2 HG02630.hp1
HG02922.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.303-6618C>T
c.303-6618C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656184
chr2:232656225 G
G
 A
A
 1 a0001c0001t0005g0264
a0001c0001t0005g0264
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.303-6577G>A
c.303-6577G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656225
chr2:232656226 T
T
 C
C
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.303-6576T>C
c.303-6576T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656226
chr2:232656232 T
T
 C
C
 138 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
others(135): Show 
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0002g0200
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0286
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0304
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0016g0216
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0005g0302
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0003c0005t0001g0028
a0003c0005t0002g0015
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
a0008c0013t0001g0027
 146 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-6570T>C
c.303-6570T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656232
chr2:232656426 CT
CT
 C
C
 7 a0001c0001t0002g0258
a0001c0001t0003g0234
a0001c0004t0002g0131
others(4): Show 
a0001c0001t0002g0258
a0001c0001t0003g0234
a0001c0004t0002g0131
a0001c0004t0004g0169
a0002c0002t0001g0254
a0002c0002t0001g0328
a0002c0002t0015g0313
 7 HG00140.hp1
HG01070.hp2
HG01256.hp1
others(4): Show 
HG00140.hp1
HG01070.hp2
HG01256.hp1
HG01516.hp1
NA18942.hp2
NA18973.hp1
NA19062.hp1
 intron_variant MODIFIER c.303-6359delT
c.303-6359delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232656426
chr2:232656513 C
C
 T
T
 1 a0002c0002t0001g0198
a0002c0002t0001g0198
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.303-6289C>T
c.303-6289C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656513
chr2:232656530 G
G
 T
T
 2 a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0277
a0001c0001t0006g0278
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.303-6272G>T
c.303-6272G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656530
chr2:232656609 T
T
 A
A
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.303-6193T>A
c.303-6193T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656609
chr2:232656904 G
G
 A
A
 1 a0001c0001t0003g0235
a0001c0001t0003g0235
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.303-5898G>A
c.303-5898G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656904
chr2:232656917 C
C
 T
T
 9 a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0007g0304
others(6): Show 
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0009t0005g0299
a0002c0002t0005g0302
a0003c0005t0001g0028
a0008c0013t0001g0027
 9 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(6): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG02683.hp2
HG02735.hp1
HG03239.hp1
HG03669.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.303-5885C>T
c.303-5885C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656917
chr2:232656926 G
G
 A
A
 11 a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
others(8): Show 
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0002c0003t0001g0189
 11 HG02135.hp2
NA18939.hp2
NA18944.hp1
others(8): Show 
HG02135.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
NA19084.hp2
 intron_variant MODIFIER c.303-5876G>A
c.303-5876G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232656926
chr2:232657006 C
C
 T
T
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.303-5796C>T
c.303-5796C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657006
chr2:232657022 C
C
 G
G
 7 a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
others(4): Show 
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0007g0296
a0001c0001t0010g0298
 7 HG02145.hp2
HG02572.hp1
HG02976.hp1
others(4): Show 
HG02145.hp2
HG02572.hp1
HG02976.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.303-5780C>G
c.303-5780C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657022
chr2:232657028 C
C
 G
G
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA18997.hp1
NA18997.hp1
 intron_variant MODIFIER c.303-5774C>G
c.303-5774C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657028
chr2:232657030 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA18997.hp1
NA18997.hp1
 intron_variant MODIFIER c.303-5772T>C
c.303-5772T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657030
chr2:232657031 G
G
 T
T
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA18997.hp1
NA18997.hp1
 intron_variant MODIFIER c.303-5771G>T
c.303-5771G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657031
chr2:232657254 A
A
 C
C
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0315
a0002c0002t0001g0047
 6 HG00544.hp2
HG02083.hp2
HG02300.hp1
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02300.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.303-5548A>C
c.303-5548A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657254
chr2:232657320 T
T
 C
C
 14 a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
others(11): Show 
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0005g0302
a0002c0003t0001g0170
a0003c0005t0001g0028
a0008c0013t0001g0027
 14 HG00280.hp1
HG00642.hp1
HG01175.hp2
others(11): Show 
HG00280.hp1
HG00642.hp1
HG01175.hp2
HG02683.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp2
HG03239.hp1
HG03669.hp2
NA18906.hp2
NA19030.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-5482T>C
c.303-5482T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657320
chr2:232657322 C
C
 A
A
 3 a0001c0001t0020g0276
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0001t0020g0276
a0001c0004t0004g0163
a0001c0004t0004g0164
 3 HG03041.hp2
HG03098.hp1
NA18906.hp1
HG03041.hp2
HG03098.hp1
NA18906.hp1
 intron_variant MODIFIER c.303-5480C>A
c.303-5480C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657322
chr2:232657332 G
G
 A
A
 12 a0001c0001t0001g0172
a0001c0001t0003g0307
a0001c0001t0005g0364
others(9): Show 
a0001c0001t0001g0172
a0001c0001t0003g0307
a0001c0001t0005g0364
a0001c0001t0016g0216
a0001c0004t0002g0262
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0003t0001g0220
a0003c0005t0002g0015
 12 HG01891.hp2
HG02109.hp1
HG02965.hp1
others(9): Show 
HG01891.hp2
HG02109.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.303-5470G>A
c.303-5470G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657332
chr2:232657436 A
A
 G
G
 1 a0001c0004t0003g0094
a0001c0004t0003g0094
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.303-5366A>G
c.303-5366A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657436
chr2:232657467 G
G
 C
C
 42 a0001c0001t0001g0172
a0001c0001t0002g0246
a0001c0001t0002g0252
others(39): Show 
a0001c0001t0001g0172
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0364
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0004t0002g0262
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0003t0001g0220
a0003c0005t0002g0015
 44 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(41): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02451.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02738.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG04228.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.303-5335G>C
c.303-5335G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657467
chr2:232657548 G
G
 A
A
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.303-5254G>A
c.303-5254G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657548
chr2:232657668 G
G
 A
A
 6 a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
others(3): Show 
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 6 HG01891.hp2
HG02965.hp1
HG03130.hp2
others(3): Show 
HG01891.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.303-5134G>A
c.303-5134G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657668
chr2:232657812 C
C
 CA
CA
 23 a0001c0001t0001g0033
a0001c0001t0001g0051
a0001c0001t0003g0270
others(20): Show 
a0001c0001t0001g0033
a0001c0001t0001g0051
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0002
a0001c0001t0007g0295
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0294
a0001c0001t0023g0309
a0001c0004t0001g0182
a0002c0002t0005g0284
a0003c0005t0006g0259
 26 HG01243.hp1
HG02055.hp1
HG02145.hp1
others(23): Show 
HG01243.hp1
HG02055.hp1
HG02145.hp1
HG02280.hp2
HG02615.hp1
HG02615.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18997.hp1
NA19240.hp1
 intron_variant MODIFIER c.303-4977dupA
c.303-4977dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232657812
chr2:232657869 T
T
 C
C
 2 a0001c0001t0002g0204
a0003c0005t0002g0060
a0001c0001t0002g0204
a0003c0005t0002g0060
 2 HG03654.hp1
HG04199.hp1
HG03654.hp1
HG04199.hp1
 intron_variant MODIFIER c.303-4933T>C
c.303-4933T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657869
chr2:232657894 C
C
 CT
CT
 3 a0001c0001t0001g0012
a0001c0001t0005g0297
a0005c0008t0001g0022
a0001c0001t0001g0012
a0001c0001t0005g0297
a0005c0008t0001g0022
 3 HG01106.hp2
HG01433.hp2
HG02559.hp2
HG01106.hp2
HG01433.hp2
HG02559.hp2
 intron_variant MODIFIER c.303-4904dupT
c.303-4904dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232657894
chr2:232657899 C
C
 CT
CT
 68 a0001c0001t0001g0019
a0001c0001t0001g0051
a0001c0001t0001g0172
others(65): Show 
a0001c0001t0001g0019
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0326
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0004t0002g0127
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0152
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0148
a0002c0002t0001g0174
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0005g0302
a0002c0002t0022g0263
a0002c0003t0001g0076
a0002c0003t0001g0110
a0002c0003t0001g0159
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0196
a0002c0003t0001g0220
a0003c0005t0001g0028
a0003c0005t0002g0015
a0008c0013t0001g0027
 70 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(67): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02148.hp1
HG02451.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18950.hp1
NA18972.hp2
NA18994.hp1
NA18997.hp1
NA19000.hp1
NA19000.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19062.hp2
NA19084.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-4884dupT
c.303-4884dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232657899
chr2:232657899 C
C
 CTT
CTT
 7 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(4): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0315
a0001c0001t0002g0153
a0001c0006t0005g0365
a0002c0002t0001g0232
 7 HG00544.hp2
HG01109.hp1
HG01175.hp1
others(4): Show 
HG00544.hp2
HG01109.hp1
HG01175.hp1
HG02083.hp2
HG03130.hp2
NA18951.hp2
NA18999.hp1
 intron_variant MODIFIER c.303-4885_303-4884d
others(4): Show 
c.303-4885_303-4884dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232657899
chr2:232657899 C
C
 T
T
 10 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0005g0297
others(7): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0005g0297
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0004t0001g0057
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 10 HG01099.hp1
HG01106.hp2
HG01433.hp2
others(7): Show 
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG02109.hp2
HG02559.hp2
HG02723.hp1
HG03486.hp1
HG03490.hp1
HG03831.hp1
NA18522.hp2
 intron_variant MODIFIER c.303-4903C>T
c.303-4903C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657899
chr2:232657904 T
T
 C
C
 2 a0001c0001t0001g0265
a0001c0001t0005g0264
a0001c0001t0001g0265
a0001c0001t0005g0264
 2 HG03540.hp1
NA20129.hp2
HG03540.hp1
NA20129.hp2
 intron_variant MODIFIER c.303-4898T>C
c.303-4898T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657904
chr2:232657969 C
C
 T
T
 24 a0001c0001t0001g0033
a0001c0001t0001g0308
a0001c0001t0001g0356
others(21): Show 
a0001c0001t0001g0033
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0294
a0001c0001t0011g0038
a0001c0001t0023g0309
a0001c0004t0001g0182
a0002c0002t0005g0284
a0003c0005t0006g0259
 27 HG01243.hp1
HG02055.hp1
HG02145.hp1
others(24): Show 
HG01243.hp1
HG02055.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.303-4833C>T
c.303-4833C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232657969
chr2:232658011 C
C
 T
T
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.303-4791C>T
c.303-4791C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658011
chr2:232658138 G
G
 C
C
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.303-4664G>C
c.303-4664G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658138
chr2:232658317 A
A
 G
G
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.303-4485A>G
c.303-4485A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658317
chr2:232658355 G
G
 A
A
 13 a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
others(10): Show 
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0007g0002
a0001c0001t0007g0295
a0001c0001t0007g0305
a0001c0001t0008g0294
a0001c0001t0023g0309
a0001c0004t0001g0182
 16 HG02145.hp1
HG02280.hp2
HG02615.hp2
others(13): Show 
HG02145.hp1
HG02280.hp2
HG02615.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03579.hp1
NA19240.hp1
 intron_variant MODIFIER c.303-4447G>A
c.303-4447G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658355
chr2:232658365 A
A
 G
G
 56 a0001c0001t0001g0172
a0001c0001t0002g0246
a0001c0001t0002g0252
others(53): Show 
a0001c0001t0001g0172
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0304
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0016g0216
a0001c0004t0002g0262
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0005g0302
a0002c0003t0001g0170
a0002c0003t0001g0220
a0003c0005t0001g0028
a0003c0005t0002g0015
a0008c0013t0001g0027
 58 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(55): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02451.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG04228.hp1
NA18906.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-4437A>G
c.303-4437A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658365
chr2:232658389 AGCCT
AGCCT
 A
A
 112 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0033
others(109): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0182
a0001c0004t0002g0262
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0047
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0003t0001g0170
a0002c0003t0001g0220
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0005c0008t0001g0022
a0008c0013t0001g0027
 117 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(114): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-4406_303-4403d
others(6): Show 
c.303-4406_303-4403delCTGC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232658389
chr2:232658439 G
G
 A
A
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.303-4363G>A
c.303-4363G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658439
chr2:232658473 C
C
 T
T
 5 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(2): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0006g0058
 5 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(2): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
 intron_variant MODIFIER c.303-4329C>T
c.303-4329C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658473
chr2:232658474 G
G
 A
A
 1 a0002c0002t0001g0155
a0002c0002t0001g0155
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.303-4328G>A
c.303-4328G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658474
chr2:232658526 C
C
 T
T
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.303-4276C>T
c.303-4276C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658526
chr2:232658527 G
G
 A
A
 1 a0002c0002t0001g0279
a0002c0002t0001g0279
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.303-4275G>A
c.303-4275G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658527
chr2:232658528 A
A
 G
G
 1 a0001c0004t0004g0081
a0001c0004t0004g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.303-4274A>G
c.303-4274A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658528
chr2:232658566 C
C
 G
G
 1 a0002c0002t0001g0279
a0002c0002t0001g0279
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.303-4236C>G
c.303-4236C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658566
chr2:232658599 G
G
 A
A
 11 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(8): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0315
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0002c0002t0001g0047
a0003c0005t0006g0058
 11 HG00544.hp2
HG01109.hp2
HG02083.hp2
others(8): Show 
HG00544.hp2
HG01109.hp2
HG02083.hp2
HG02258.hp2
HG02300.hp1
HG02622.hp2
HG02630.hp1
HG02922.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.303-4203G>A
c.303-4203G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658599
chr2:232658774 T
T
 C
C
 11 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0265
others(8): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0265
a0001c0001t0005g0297
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0004t0001g0057
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0011g0023
a0005c0008t0001g0022
 11 HG01099.hp1
HG01106.hp2
HG01433.hp2
others(8): Show 
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG02109.hp2
HG02559.hp2
HG02723.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03831.hp1
NA18522.hp2
 intron_variant MODIFIER c.303-4028T>C
c.303-4028T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658774
chr2:232658787 T
T
 A
A
 1 a0002c0003t0001g0165
a0002c0003t0001g0165
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.303-4015T>A
c.303-4015T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658787
chr2:232658907 G
G
 A
A
 62 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(59): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0315
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0307
a0001c0001t0005g0264
a0001c0001t0005g0364
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0007g0296
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0004t0002g0262
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0047
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0003t0001g0220
a0003c0005t0002g0015
a0003c0005t0006g0058
 64 HG00099.hp2
HG00140.hp1
HG00544.hp2
others(61): Show 
HG00099.hp2
HG00140.hp1
HG00544.hp2
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02738.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG04228.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.303-3895G>A
c.303-3895G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232658907
chr2:232659142 C
C
 T
T
 1 a0002c0003t0001g0073
a0002c0003t0001g0073
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.303-3660C>T
c.303-3660C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232659142
chr2:232659711 C
C
 T
T
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.303-3091C>T
c.303-3091C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232659711
chr2:232659738 GACTA
GACTA
 G
G
 20 a0001c0001t0001g0077
a0001c0001t0002g0013
a0001c0001t0002g0118
others(17): Show 
a0001c0001t0001g0077
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0003g0117
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0004t0002g0136
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0003c0005t0002g0060
 20 HG00140.hp2
HG00280.hp2
HG01106.hp1
others(17): Show 
HG00140.hp2
HG00280.hp2
HG01106.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01516.hp1
HG02559.hp1
HG02698.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04199.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303-3058_303-3055d
others(6): Show 
c.303-3058_303-3055delCTAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232659738
chr2:232659815 T
T
 A
A
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.303-2987T>A
c.303-2987T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232659815
chr2:232659834 G
G
 T
T
 1 a0002c0003t0001g0212
a0002c0003t0001g0212
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.303-2968G>T
c.303-2968G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232659834
chr2:232659874 G
G
 C
C
 1 a0001c0001t0005g0264
a0001c0001t0005g0264
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.303-2928G>C
c.303-2928G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232659874
chr2:232660050 A
A
 G
G
 2 a0001c0004t0003g0083
a0001c0004t0003g0187
a0001c0004t0003g0083
a0001c0004t0003g0187
 2 NA18939.hp2
NA18946.hp1
NA18939.hp2
NA18946.hp1
 intron_variant MODIFIER c.303-2752A>G
c.303-2752A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660050
chr2:232660070 G
G
 C
C
 1 a0002c0003t0001g0110
a0002c0003t0001g0110
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.303-2732G>C
c.303-2732G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660070
chr2:232660130 A
A
 G
G
 2 a0002c0003t0001g0112
a0002c0003t0014g0116
a0002c0003t0001g0112
a0002c0003t0014g0116
 2 HG03831.hp2
NA18941.hp2
HG03831.hp2
NA18941.hp2
 intron_variant MODIFIER c.303-2672A>G
c.303-2672A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660130
chr2:232660171 ATTTAT
ATTTAT
 A
A
 6 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(3): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0021g0272
a0003c0005t0002g0015
a0003c0005t0006g0058
 6 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(3): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
HG03139.hp1
 intron_variant MODIFIER c.303-2613_303-2609d
others(7): Show 
c.303-2613_303-2609delTATTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232660171
chr2:232660190 A
A
 AT
AT
 43 a0001c0001t0002g0013
a0001c0001t0002g0246
a0001c0001t0002g0252
others(40): Show 
a0001c0001t0002g0013
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0004t0002g0262
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0132
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0003t0001g0220
 45 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(42): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02738.hp2
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03688.hp2
HG03704.hp1
HG04228.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.303-2609dupT
c.303-2609dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232660190
chr2:232660194 A
A
 T
T
 1 a0002c0002t0001g0257
a0002c0002t0001g0257
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.303-2608A>T
c.303-2608A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660194
chr2:232660201 TA
TA
 T
T
 9 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0036
others(6): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0036
a0001c0001t0005g0297
a0001c0001t0009g0273
a0001c0004t0001g0057
a0003c0005t0001g0021
a0003c0005t0001g0029
a0005c0008t0001g0022
 9 HG01099.hp1
HG01106.hp2
HG01433.hp2
others(6): Show 
HG01099.hp1
HG01106.hp2
HG01433.hp2
HG02109.hp2
HG02559.hp2
HG03490.hp1
HG03831.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.303-2600delA
c.303-2600delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660201
chr2:232660202 A
A
 T
T
 14 a0001c0001t0001g0024
a0001c0001t0009g0274
a0001c0004t0001g0223
others(11): Show 
a0001c0001t0001g0024
a0001c0001t0009g0274
a0001c0004t0001g0223
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0002c0003t0001g0189
 14 HG00609.hp1
HG03486.hp1
HG06807.hp2
others(11): Show 
HG00609.hp1
HG03486.hp1
HG06807.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
NA19084.hp2
 intron_variant MODIFIER c.303-2600A>T
c.303-2600A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660202
chr2:232660202 AT
AT
 A
A
 21 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(18): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0001g0315
a0001c0001t0005g0286
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0011g0038
a0001c0001t0021g0272
a0002c0002t0001g0047
a0002c0002t0005g0284
a0002c0002t0022g0263
a0002c0003t0001g0120
a0003c0005t0006g0058
a0003c0005t0006g0259
 21 HG00544.hp2
HG01109.hp2
HG01891.hp1
others(18): Show 
HG00544.hp2
HG01109.hp2
HG01891.hp1
HG02083.hp2
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02451.hp2
HG02622.hp2
HG02630.hp1
HG02809.hp2
HG02922.hp2
HG03041.hp1
HG03139.hp2
HG03516.hp1
HG03540.hp2
NA18522.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
NA20129.hp1
 intron_variant MODIFIER c.303-2590delT
c.303-2590delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232660202
chr2:232660202 ATT
ATT
 A
A
 193 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0265
others(190): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0265
a0001c0001t0001g0356
a0001c0001t0002g0324
a0001c0001t0002g0347
a0001c0001t0003g0117
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0030
a0001c0001t0006g0079
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0295
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0294
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0023g0309
a0001c0004t0001g0156
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0095
a0001c0004t0002g0130
a0001c0004t0002g0225
a0001c0004t0003g0071
a0001c0004t0003g0094
a0001c0004t0003g0111
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0009t0005g0299
a0001c0011t0003g0043
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0106
a0002c0002t0001g0155
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0255
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0340
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0028
a0003c0005t0002g0015
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 204 HG00099.hp1
HG00280.hp1
HG00323.hp1
others(201): Show 
HG00099.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01496.hp1
HG01934.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18990.hp2
NA18994.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.303-2591_303-2590d
others(4): Show 
c.303-2591_303-2590delTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232660202
chr2:232660204 T
T
 TTA
TTA
 44 a0001c0001t0002g0013
a0001c0001t0002g0246
a0001c0001t0002g0252
others(41): Show 
a0001c0001t0002g0013
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0009g0271
a0001c0001t0016g0216
a0001c0004t0002g0262
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0132
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0003t0001g0220
 46 HG00099.hp2
HG00140.hp1
HG00609.hp2
others(43): Show 
HG00099.hp2
HG00140.hp1
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02451.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02738.hp2
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG04228.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.303-2597_303-2596i
others(4): Show 
c.303-2597_303-2596insAT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232660204
chr2:232660235 C
C
 T
T
 124 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0265
others(121): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0265
a0001c0001t0002g0324
a0001c0001t0002g0347
a0001c0001t0003g0117
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0006g0030
a0001c0001t0006g0269
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0295
a0001c0001t0007g0305
a0001c0001t0008g0294
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0001t0023g0309
a0001c0004t0001g0156
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0130
a0001c0004t0002g0225
a0001c0004t0003g0071
a0001c0004t0003g0111
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0011t0003g0043
a0002c0002t0001g0011
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0106
a0002c0002t0001g0155
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0340
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0363
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0003t0001g0003
a0002c0003t0001g0005
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0011g0023
a0007c0010t0001g0346
 130 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(127): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01123.hp1
HG01167.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01934.hp2
HG01981.hp2
HG01993.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18942.hp2
NA18946.hp2
NA18947.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18989.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.303-2567C>T
c.303-2567C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660235
chr2:232660257 C
C
 T
T
 2 a0001c0001t0001g0356
a0001c0001t0007g0290
a0001c0001t0001g0356
a0001c0001t0007g0290
 2 HG02257.hp1
HG03579.hp2
HG02257.hp1
HG03579.hp2
 intron_variant MODIFIER c.303-2545C>T
c.303-2545C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660257
chr2:232660287 T
T
 C
C
 8 a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0007g0304
others(5): Show 
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0007g0304
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0009t0005g0299
a0003c0005t0001g0028
a0008c0013t0001g0027
 8 HG00280.hp1
HG01175.hp2
HG02683.hp2
others(5): Show 
HG00280.hp1
HG01175.hp2
HG02683.hp2
HG02735.hp1
HG03239.hp1
HG03669.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.303-2515T>C
c.303-2515T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660287
chr2:232660388 A
A
 G
G
 2 a0001c0001t0001g0172
a0001c0001t0011g0038
a0001c0001t0001g0172
a0001c0001t0011g0038
 2 HG03041.hp1
HG03516.hp1
HG03041.hp1
HG03516.hp1
 intron_variant MODIFIER c.303-2414A>G
c.303-2414A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660388
chr2:232660405 A
A
 G
G
 1 a0008c0013t0001g0027
a0008c0013t0001g0027
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.303-2397A>G
c.303-2397A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660405
chr2:232660435 C
C
 T
T
 1 a0002c0003t0001g0084
a0002c0003t0001g0084
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.303-2367C>T
c.303-2367C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660435
chr2:232660446 C
C
 T
T
 6 a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
others(3): Show 
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 6 HG01891.hp2
HG02965.hp1
HG03130.hp2
others(3): Show 
HG01891.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.303-2356C>T
c.303-2356C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660446
chr2:232660497 G
G
 A
A
 6 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(3): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0008g0294
a0001c0001t0021g0272
a0003c0005t0006g0058
 6 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(3): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02922.hp2
HG03130.hp1
 intron_variant MODIFIER c.303-2305G>A
c.303-2305G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660497
chr2:232660610 C
C
 T
T
 9 a0002c0002t0001g0214
a0002c0003t0001g0087
a0002c0003t0001g0088
others(6): Show 
a0002c0002t0001g0214
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
 9 HG00558.hp2
NA18944.hp2
NA18952.hp2
others(6): Show 
HG00558.hp2
NA18944.hp2
NA18952.hp2
NA18959.hp2
NA18986.hp1
NA18999.hp2
NA19084.hp1
NA19088.hp2
NA19089.hp2
 intron_variant MODIFIER c.303-2192C>T
c.303-2192C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660610
chr2:232660683 A
A
 G
G
 1 a0001c0001t0002g0219
a0001c0001t0002g0219
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.303-2119A>G
c.303-2119A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660683
chr2:232660972 C
C
 T
T
 1 a0002c0002t0015g0313
a0002c0002t0015g0313
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.303-1830C>T
c.303-1830C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660972
chr2:232660973 G
G
 A
A
 1 a0001c0004t0002g0138
a0001c0004t0002g0138
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.303-1829G>A
c.303-1829G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232660973
chr2:232661054 A
A
 G
G
 1 a0001c0001t0005g0264
a0001c0001t0005g0264
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.303-1748A>G
c.303-1748A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661054
chr2:232661080 G
G
 A
A
 1 a0002c0002t0005g0284
a0002c0002t0005g0284
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.303-1722G>A
c.303-1722G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661080
chr2:232661084 G
G
 A
A
 11 a0001c0004t0001g0223
a0001c0004t0003g0082
a0001c0004t0003g0083
others(8): Show 
a0001c0004t0001g0223
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
 11 HG00609.hp1
HG02135.hp2
NA18939.hp2
others(8): Show 
HG00609.hp1
HG02135.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
 intron_variant MODIFIER c.303-1718G>A
c.303-1718G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661084
chr2:232661099 G
G
 T
T
 1 a0001c0001t0005g0264
a0001c0001t0005g0264
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.303-1703G>T
c.303-1703G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661099
chr2:232661103 G
G
 A
A
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.303-1699G>A
c.303-1699G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661103
chr2:232661147 C
C
 CA
CA
 15 a0001c0001t0005g0286
a0001c0001t0006g0025
a0001c0001t0006g0026
others(12): Show 
a0001c0001t0005g0286
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0013g0039
a0001c0001t0021g0272
a0002c0002t0005g0284
a0002c0002t0022g0263
a0002c0003t0001g0120
a0003c0005t0006g0058
 15 HG01109.hp2
HG01891.hp1
HG02257.hp2
others(12): Show 
HG01109.hp2
HG01891.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02630.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03195.hp1
NA18522.hp1
NA20129.hp1
 intron_variant MODIFIER c.303-1645dupA
c.303-1645dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232661147
chr2:232661152 A
A
 C
C
 2 a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0123
a0002c0003t0001g0124
 2 NA18947.hp2
NA19010.hp1
NA18947.hp2
NA19010.hp1
 intron_variant MODIFIER c.303-1650A>C
c.303-1650A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661152
chr2:232661152 AAAAAAC
AAAAAAC
 A
A
 99 a0001c0001t0001g0077
a0001c0001t0001g0308
a0001c0001t0002g0013
others(96): Show 
a0001c0001t0001g0077
a0001c0001t0001g0308
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0179
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0252
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0056
a0001c0001t0003g0117
a0001c0001t0003g0228
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0247
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0329
a0001c0001t0004g0344
a0001c0001t0007g0291
a0001c0001t0007g0296
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0004t0002g0062
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0003g0094
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0005g0292
a0003c0005t0001g0017
a0003c0005t0002g0018
a0003c0005t0002g0060
 101 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(98): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01109.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02698.hp2
HG02723.hp2
HG02738.hp2
HG02976.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA18983.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19012.hp2
NA19030.hp1
NA19056.hp2
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.303-1638_303-1633d
others(8): Show 
c.303-1638_303-1633delCAAAAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232661152
chr2:232661201 G
G
 A
A
 3 a0001c0001t0001g0265
a0001c0001t0004g0031
a0001c0001t0006g0030
a0001c0001t0001g0265
a0001c0001t0004g0031
a0001c0001t0006g0030
 3 HG02615.hp1
HG02922.hp1
HG03540.hp1
HG02615.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.303-1601G>A
c.303-1601G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661201
chr2:232661387 G
G
 A
A
 73 a0001c0001t0001g0077
a0001c0001t0001g0308
a0001c0001t0002g0118
others(70): Show 
a0001c0001t0001g0077
a0001c0001t0001g0308
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0056
a0001c0001t0003g0236
a0001c0001t0003g0240
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0329
a0001c0001t0004g0344
a0001c0001t0007g0291
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0003g0061
a0001c0004t0003g0063
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0005g0292
a0002c0003t0001g0189
a0003c0005t0001g0017
a0003c0005t0002g0018
a0003c0005t0002g0060
 73 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(70): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp2
HG01070.hp1
HG01106.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02293.hp1
HG02559.hp1
HG02572.hp2
HG02698.hp2
HG02723.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA18973.hp1
NA18983.hp1
NA18989.hp2
NA18990.hp1
NA18994.hp1
NA18995.hp2
NA19012.hp2
NA19056.hp2
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303-1415G>A
c.303-1415G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661387
chr2:232661567 C
C
 T
T
 1 a0002c0003t0001g0101
a0002c0003t0001g0101
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.303-1235C>T
c.303-1235C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661567
chr2:232661568 C
C
 CT
CT
 9 a0001c0001t0001g0265
a0001c0001t0003g0032
a0001c0001t0003g0307
others(6): Show 
a0001c0001t0001g0265
a0001c0001t0003g0032
a0001c0001t0003g0307
a0001c0001t0004g0344
a0001c0001t0016g0216
a0001c0004t0002g0149
a0001c0004t0002g0161
a0002c0002t0015g0313
a0002c0003t0001g0059
 9 HG02056.hp1
HG02109.hp1
HG02976.hp2
others(6): Show 
HG02056.hp1
HG02109.hp1
HG02976.hp2
HG03540.hp1
NA18972.hp1
NA19030.hp1
NA19062.hp1
NA19083.hp1
NA19086.hp1
 intron_variant MODIFIER c.303-1216dupT
c.303-1216dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232661568
chr2:232661568 C
C
 CTT
CTT
 83 a0001c0001t0002g0013
a0001c0001t0002g0200
a0001c0001t0002g0252
others(80): Show 
a0001c0001t0002g0013
a0001c0001t0002g0200
a0001c0001t0002g0252
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0117
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0079
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0094
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0255
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0069
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0170
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 91 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG02027.hp2
HG02056.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG03098.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18952.hp2
NA18959.hp2
NA18969.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19065.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-1217_303-1216d
others(4): Show 
c.303-1217_303-1216dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232661568
chr2:232661568 C
C
 T
T
 1 a0002c0003t0001g0101
a0002c0003t0001g0101
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.303-1234C>T
c.303-1234C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661568
chr2:232661568 CT
CT
 C
C
 139 a0001c0001t0001g0019
a0001c0001t0001g0052
a0001c0001t0003g0245
others(136): Show 
a0001c0001t0001g0019
a0001c0001t0001g0052
a0001c0001t0003g0245
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0319
a0001c0001t0004g0338
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0004t0001g0156
a0001c0004t0001g0221
a0001c0004t0001g0223
a0001c0004t0002g0016
a0001c0004t0002g0130
a0001c0004t0003g0063
a0001c0004t0003g0071
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0111
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0011t0003g0043
a0002c0002t0001g0011
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0106
a0002c0002t0001g0155
a0002c0002t0001g0233
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0340
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0022g0263
a0002c0003t0001g0005
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0006g0259
 140 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(137): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01981.hp2
HG01993.hp1
HG02027.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03516.hp1
HG03540.hp2
HG03831.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.303-1216delT
c.303-1216delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232661568
chr2:232661568 CTT
CTT
 C
C
 7 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(4): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0315
a0002c0002t0001g0044
a0002c0002t0001g0047
 7 HG00544.hp2
HG02083.hp2
HG02300.hp1
others(4): Show 
HG00544.hp2
HG02083.hp2
HG02300.hp1
NA18951.hp2
NA18954.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.303-1217_303-1216d
others(4): Show 
c.303-1217_303-1216delTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 INFO_REALIGN_3_PRIME chr2 232661568
chr2:232661569 T
T
 C
C
 2 a0001c0001t0002g0343
a0001c0001t0004g0329
a0001c0001t0002g0343
a0001c0001t0004g0329
 2 HG00621.hp2
HG02129.hp1
HG00621.hp2
HG02129.hp1
 intron_variant MODIFIER c.303-1233T>C
c.303-1233T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661569
chr2:232661570 T
T
 C
C
 1 a0001c0001t0021g0272
a0001c0001t0021g0272
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.303-1232T>C
c.303-1232T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661570
chr2:232661598 G
G
 C
C
 1 a0001c0004t0001g0221
a0001c0004t0001g0221
 1 NA18981.hp2
NA18981.hp2
 intron_variant MODIFIER c.303-1204G>C
c.303-1204G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661598
chr2:232661653 G
G
 A
A
 7 a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
others(4): Show 
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0007g0296
a0001c0001t0010g0298
 7 HG02145.hp2
HG02572.hp1
HG02976.hp1
others(4): Show 
HG02145.hp2
HG02572.hp1
HG02976.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.303-1149G>A
c.303-1149G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661653
chr2:232661686 A
A
 G
G
 81 a0001c0001t0001g0024
a0001c0001t0001g0265
a0001c0001t0002g0013
others(78): Show 
a0001c0001t0001g0024
a0001c0001t0001g0265
a0001c0001t0002g0013
a0001c0001t0002g0200
a0001c0001t0002g0252
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0117
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0247
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0009g0271
a0001c0004t0001g0167
a0001c0004t0002g0095
a0001c0004t0003g0094
a0001c0004t0006g0041
a0001c0004t0006g0042
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0102
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0255
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0015g0313
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0170
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
 89 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG02027.hp2
HG02056.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18952.hp2
NA18959.hp2
NA18969.hp1
NA18975.hp1
NA18980.hp1
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19062.hp1
NA19065.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-1116A>G
c.303-1116A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661686
chr2:232661748 CAG
CAG
 C
C
 85 a0001c0001t0002g0013
a0001c0001t0002g0252
a0001c0001t0003g0007
others(82): Show 
a0001c0001t0002g0013
a0001c0001t0002g0252
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0117
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0247
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0009g0271
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0016g0216
a0001c0004t0002g0095
a0001c0004t0002g0262
a0001c0004t0003g0094
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0040
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0255
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0015g0313
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0170
a0002c0003t0019g0129
a0003c0005t0001g0029
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0008c0013t0001g0027
 93 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00323.hp2
HG00544.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG02027.hp2
HG02056.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02451.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG02897.hp2
HG02976.hp2
HG03098.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18952.hp2
NA18959.hp2
NA18969.hp1
NA18975.hp1
NA18980.hp1
NA18986.hp1
NA18990.hp2
NA18999.hp2
NA19003.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19062.hp1
NA19065.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.303-1053_303-1052d
others(4): Show 
c.303-1053_303-1052delAG
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661748
chr2:232661760 A
A
 G
G
 5 a0002c0002t0001g0226
a0002c0002t0001g0227
a0003c0005t0001g0029
others(2): Show 
a0002c0002t0001g0226
a0002c0002t0001g0227
a0003c0005t0001g0029
a0004c0007t0001g0006
a0004c0007t0001g0217
 6 HG00733.hp2
HG00735.hp1
HG01074.hp2
others(3): Show 
HG00733.hp2
HG00735.hp1
HG01074.hp2
HG01123.hp2
HG02148.hp1
HG03831.hp1
 intron_variant MODIFIER c.303-1042A>G
c.303-1042A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661760
chr2:232661848 A
A
 G
G
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.303-954A>G
c.303-954A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232661848
chr2:232662160 G
G
 A
A
 1 a0001c0001t0001g0012
a0001c0001t0001g0012
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.303-642G>A
c.303-642G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662160
chr2:232662177 A
A
 G
G
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0315
a0002c0002t0001g0047
 6 HG00544.hp2
HG02083.hp2
HG02300.hp1
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02300.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.303-625A>G
c.303-625A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662177
chr2:232662272 G
G
 A
A
 9 a0001c0001t0005g0364
a0001c0001t0006g0079
a0001c0001t0008g0283
others(6): Show 
a0001c0001t0005g0364
a0001c0001t0006g0079
a0001c0001t0008g0283
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0003c0005t0011g0023
 9 HG01243.hp1
HG01891.hp2
HG02723.hp1
others(6): Show 
HG01243.hp1
HG01891.hp2
HG02723.hp1
HG02965.hp1
HG03130.hp2
HG03195.hp2
HG03471.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.303-530G>A
c.303-530G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662272
chr2:232662367 C
C
 G
G
 1 a0002c0002t0001g0047
a0002c0002t0001g0047
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.303-435C>G
c.303-435C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662367
chr2:232662368 CA
CA
 C
C
 3 a0001c0001t0001g0024
a0001c0001t0001g0356
a0001c0001t0007g0290
a0001c0001t0001g0024
a0001c0001t0001g0356
a0001c0001t0007g0290
 3 HG02257.hp1
HG03579.hp2
HG06807.hp2
HG02257.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.303-433delA
c.303-433delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662368
chr2:232662430 C
C
 T
T
 11 a0001c0004t0001g0223
a0001c0004t0003g0082
a0001c0004t0003g0083
others(8): Show 
a0001c0004t0001g0223
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
 11 HG00609.hp1
HG02135.hp2
NA18939.hp2
others(8): Show 
HG00609.hp1
HG02135.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA19004.hp2
NA19081.hp1
 intron_variant MODIFIER c.303-372C>T
c.303-372C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662430
chr2:232662514 G
G
 A
A
 44 a0001c0001t0001g0172
a0001c0001t0003g0245
a0001c0001t0003g0266
others(41): Show 
a0001c0001t0001g0172
a0001c0001t0003g0245
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0338
a0001c0001t0004g0352
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0293
a0001c0001t0006g0269
a0001c0001t0007g0002
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0305
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0001g0156
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0191
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0022g0263
 46 HG00323.hp1
HG00408.hp2
HG00609.hp2
others(43): Show 
HG00323.hp1
HG00408.hp2
HG00609.hp2
HG02145.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
 intron_variant MODIFIER c.303-288G>A
c.303-288G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662514
chr2:232662688 G
G
 A
A
 1 a0001c0001t0004g0338
a0001c0001t0004g0338
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.303-114G>A
c.303-114G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 1/3 chr2 232662688
chr2:232663224 G
G
 T
T
 7 a0001c0001t0001g0024
a0001c0001t0001g0356
a0001c0001t0003g0307
others(4): Show 
a0001c0001t0001g0024
a0001c0001t0001g0356
a0001c0001t0003g0307
a0001c0001t0007g0290
a0001c0001t0008g0294
a0001c0001t0016g0216
a0003c0005t0002g0015
 7 HG02109.hp1
HG02257.hp1
HG02976.hp2
others(4): Show 
HG02109.hp1
HG02257.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.450+275G>T
c.450+275G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663224
chr2:232663295 T
T
 A
A
 1 a0002c0003t0001g0070
a0002c0003t0001g0070
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.450+346T>A
c.450+346T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663295
chr2:232663307 T
T
 C
C
 2 a0001c0004t0001g0167
a0002c0003t0001g0085
a0001c0004t0001g0167
a0002c0003t0001g0085
 2 NA18950.hp2
NA18998.hp1
NA18950.hp2
NA18998.hp1
 intron_variant MODIFIER c.450+358T>C
c.450+358T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663307
chr2:232663493 C
C
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.450+544C>A
c.450+544C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663493
chr2:232663529 G
G
 A
A
 43 a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
others(40): Show 
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0007g0002
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0305
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0001g0156
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 45 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(42): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02145.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp2
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.450+580G>A
c.450+580G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663529
chr2:232663570 T
T
 C
C
 1 a0002c0003t0001g0220
a0002c0003t0001g0220
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.450+621T>C
c.450+621T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663570
chr2:232663597 C
C
 G
G
 1 a0002c0002t0001g0279
a0002c0002t0001g0279
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.450+648C>G
c.450+648C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663597
chr2:232663646 G
G
 A
A
 141 a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
others(138): Show 
a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0004g0031
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0004t0002g0262
a0001c0004t0006g0191
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0340
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 148 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(145): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG03098.hp2
HG03209.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.450+697G>A
c.450+697G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663646
chr2:232663746 T
T
 C
C
 44 a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
others(41): Show 
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0007g0002
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0305
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0001g0156
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 46 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(43): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02145.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp2
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.450+797T>C
c.450+797T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663746
chr2:232663749 C
C
 T
T
 7 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(4): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
a0002c0002t0001g0047
 7 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(4): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
HG02300.hp1
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.450+800C>T
c.450+800C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663749
chr2:232663805 A
A
 G
G
 151 a0001c0001t0001g0265
a0001c0001t0002g0200
a0001c0001t0003g0032
others(148): Show 
a0001c0001t0001g0265
a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0004g0031
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0079
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0004t0002g0262
a0001c0004t0006g0191
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 158 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(155): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.450+856A>G
c.450+856A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663805
chr2:232663877 T
T
 G
G
 63 a0001c0001t0001g0308
a0001c0001t0002g0013
a0001c0001t0002g0118
others(60): Show 
a0001c0001t0001g0308
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0002c0002t0001g0173
a0002c0002t0001g0233
a0002c0002t0001g0331
a0002c0002t0005g0292
a0002c0003t0001g0120
a0002c0003t0001g0126
a0003c0005t0001g0017
a0003c0005t0002g0018
a0003c0005t0002g0060
 63 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(60): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00735.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp2
HG02132.hp1
HG02258.hp1
HG02572.hp2
HG02735.hp1
HG03139.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA18973.hp1
NA18979.hp2
NA18983.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18995.hp2
NA19009.hp1
NA19012.hp2
NA19055.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.450+928T>G
c.450+928T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232663877
chr2:232664182 A
A
 G
G
 1 a0001c0001t0002g0246
a0001c0001t0002g0246
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.450+1233A>G
c.450+1233A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664182
chr2:232664248 C
C
 T
T
 76 a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
others(73): Show 
a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0004g0031
a0001c0001t0010g0298
a0001c0004t0002g0262
a0001c0004t0006g0191
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0148
a0002c0002t0001g0174
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0255
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0337
a0002c0002t0001g0345
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0069
a0002c0003t0001g0076
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0157
a0002c0003t0001g0170
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
 83 HG00099.hp1
HG00323.hp2
HG00423.hp2
others(80): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02027.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03710.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18966.hp2
NA18969.hp1
NA18973.hp2
NA18980.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18994.hp2
NA18999.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19065.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.450+1299C>T
c.450+1299C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664248
chr2:232664258 C
C
 T
T
 1 a0001c0001t0002g0258
a0001c0001t0002g0258
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.450+1309C>T
c.450+1309C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664258
chr2:232664420 T
T
 C
C
 1 a0003c0005t0011g0023
a0003c0005t0011g0023
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.450+1471T>C
c.450+1471T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664420
chr2:232664458 A
A
 T
T
 2 a0001c0001t0003g0244
a0001c0001t0003g0248
a0001c0001t0003g0244
a0001c0001t0003g0248
 2 HG01081.hp1
NA20905.hp2
HG01081.hp1
NA20905.hp2
 intron_variant MODIFIER c.450+1509A>T
c.450+1509A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664458
chr2:232664606 G
G
 GT
GT
 76 a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0315
others(73): Show 
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0315
a0001c0001t0003g0032
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0338
a0001c0001t0004g0352
a0001c0001t0007g0305
a0001c0001t0009g0271
a0001c0004t0004g0152
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0155
a0002c0002t0001g0175
a0002c0002t0001g0201
a0002c0002t0001g0205
a0002c0002t0001g0226
a0002c0002t0001g0254
a0002c0002t0001g0279
a0002c0002t0001g0314
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0068
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0096
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0160
a0002c0003t0001g0165
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0007c0010t0001g0346
 76 HG00140.hp1
HG00280.hp2
HG00408.hp1
others(73): Show 
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01123.hp1
HG01167.hp1
HG01243.hp2
HG01346.hp2
HG01496.hp1
HG01934.hp2
HG01993.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02300.hp1
HG02300.hp2
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02895.hp1
HG03492.hp1
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp2
NA19003.hp2
NA19004.hp1
NA19011.hp1
NA19030.hp1
NA19055.hp2
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19091.hp1
 intron_variant MODIFIER c.450+1682dupT
c.450+1682dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232664606
chr2:232664606 G
G
 GTT
GTT
 15 a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
others(12): Show 
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0257
a0002c0002t0001g0340
a0002c0003t0001g0067
a0002c0003t0001g0074
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0146
a0002c0003t0001g0159
a0002c0003t0001g0162
a0002c0003t0001g0189
 15 HG00438.hp2
HG00544.hp2
HG01109.hp1
others(12): Show 
HG00438.hp2
HG00544.hp2
HG01109.hp1
HG01981.hp2
HG02293.hp2
HG02647.hp1
HG02738.hp1
HG03669.hp1
HG04199.hp2
NA18947.hp2
NA18997.hp1
NA19000.hp1
NA19010.hp1
NA19084.hp2
NA19087.hp1
 intron_variant MODIFIER c.450+1681_450+1682d
others(4): Show 
c.450+1681_450+1682dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232664606
chr2:232664606 GT
GT
 G
G
 129 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0077
others(126): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0265
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0117
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0256
a0001c0001t0003g0307
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0364
a0001c0001t0007g0290
a0001c0001t0008g0294
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0001g0223
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0003g0071
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0111
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0188
a0001c0004t0003g0224
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0207
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0011t0003g0043
a0002c0002t0001g0173
a0002c0002t0001g0203
a0002c0002t0001g0233
a0002c0002t0001g0331
a0002c0002t0001g0342
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0126
a0003c0005t0001g0017
a0003c0005t0001g0028
a0003c0005t0002g0018
a0003c0005t0002g0060
a0006c0012t0001g0100
 132 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(129): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18973.hp1
NA18979.hp2
NA18981.hp2
NA18983.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19004.hp2
NA19009.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19089.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.450+1682delT
c.450+1682delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232664606
chr2:232664606 GTT
GTT
 G
G
 26 a0001c0001t0001g0019
a0001c0001t0001g0172
a0001c0001t0002g0349
others(23): Show 
a0001c0001t0001g0019
a0001c0001t0001g0172
a0001c0001t0002g0349
a0001c0001t0003g0056
a0001c0001t0003g0228
a0001c0001t0003g0251
a0001c0001t0005g0264
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0003g0187
a0001c0004t0006g0009
a0003c0005t0006g0058
a0003c0005t0006g0259
 27 HG01109.hp2
HG01261.hp1
HG01891.hp1
others(24): Show 
HG01109.hp2
HG01261.hp1
HG01891.hp1
HG01993.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03041.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp2
NA18946.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.450+1681_450+1682d
others(4): Show 
c.450+1681_450+1682delTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232664606
chr2:232664628 T
T
 C
C
 1 a0002c0002t0001g0229
a0002c0002t0001g0229
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.450+1679T>C
c.450+1679T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664628
chr2:232664645 G
G
 A
A
 1 a0002c0002t0022g0263
a0002c0002t0022g0263
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.450+1696G>A
c.450+1696G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664645
chr2:232664703 T
T
 C
C
 1 a0001c0001t0002g0118
a0001c0001t0002g0118
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.450+1754T>C
c.450+1754T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664703
chr2:232664723 C
C
 A
A
 155 a0001c0001t0001g0265
a0001c0001t0002g0200
a0001c0001t0003g0032
others(152): Show 
a0001c0001t0001g0265
a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0004g0031
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0079
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0004t0002g0262
a0001c0004t0004g0152
a0001c0004t0006g0191
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 162 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(159): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.450+1774C>A
c.450+1774C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664723
chr2:232664895 G
G
 A
A
 1 a0001c0001t0003g0256
a0001c0001t0003g0256
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.450+1946G>A
c.450+1946G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232664895
chr2:232665151 G
G
 A
A
 1 a0001c0001t0005g0300
a0001c0001t0005g0300
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.450+2202G>A
c.450+2202G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665151
chr2:232665190 T
T
 G
G
 214 a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
others(211): Show 
a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0172
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0304
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 222 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(219): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.450+2241T>G
c.450+2241T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665190
chr2:232665199 G
G
 A
A
 1 a0002c0003t0001g0145
a0002c0003t0001g0145
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.450+2250G>A
c.450+2250G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665199
chr2:232665424 T
T
 C
C
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.450+2475T>C
c.450+2475T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665424
chr2:232665427 CT
CT
 C
C
 7 a0001c0001t0003g0241
a0001c0001t0006g0079
a0001c0001t0008g0283
others(4): Show 
a0001c0001t0003g0241
a0001c0001t0006g0079
a0001c0001t0008g0283
a0001c0004t0001g0057
a0003c0005t0001g0021
a0003c0005t0001g0029
a0007c0010t0001g0346
 7 HG01099.hp1
HG01243.hp1
HG01517.hp1
others(4): Show 
HG01099.hp1
HG01243.hp1
HG01517.hp1
HG03471.hp2
HG03490.hp1
HG03831.hp1
NA18957.hp1
 intron_variant MODIFIER c.450+2490delT
c.450+2490delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232665427
chr2:232665641 T
T
 C
C
 320 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(317): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 331 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(328): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
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
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.450+2692T>C
c.450+2692T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665641
chr2:232665664 C
C
 T
T
 1 a0001c0001t0004g0177
a0001c0001t0004g0177
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.450+2715C>T
c.450+2715C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665664
chr2:232665812 G
G
 A
A
 1 a0001c0001t0004g0031
a0001c0001t0004g0031
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.450+2863G>A
c.450+2863G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665812
chr2:232665835 C
C
 G
G
 2 a0001c0004t0003g0186
a0001c0004t0003g0188
a0001c0004t0003g0186
a0001c0004t0003g0188
 2 NA18944.hp1
NA19081.hp1
NA18944.hp1
NA19081.hp1
 intron_variant MODIFIER c.450+2886C>G
c.450+2886C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665835
chr2:232665860 T
T
 C
C
 229 a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
others(226): Show 
a0001c0001t0001g0019
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0172
a0001c0001t0001g0265
a0001c0001t0001g0315
a0001c0001t0002g0200
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0264
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0304
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0009g0271
a0001c0001t0010g0298
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0156
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0191
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 239 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(236): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.450+2911T>C
c.450+2911T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665860
chr2:232665889 A
A
 G
G
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.450+2940A>G
c.450+2940A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665889
chr2:232665926 A
A
 G
G
 1 a0001c0004t0001g0167
a0001c0004t0001g0167
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.450+2977A>G
c.450+2977A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232665926
chr2:232666179 C
C
 T
T
 6 a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
others(3): Show 
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 6 HG01891.hp2
HG02965.hp1
HG03130.hp2
others(3): Show 
HG01891.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.450+3230C>T
c.450+3230C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666179
chr2:232666276 G
G
 A
A
 1 a0003c0005t0011g0023
a0003c0005t0011g0023
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.450+3327G>A
c.450+3327G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666276
chr2:232666393 A
A
 T
T
 7 a0001c0001t0001g0033
a0001c0001t0005g0010
a0001c0001t0005g0281
others(4): Show 
a0001c0001t0001g0033
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0001t0011g0038
a0001c0004t0001g0182
 8 HG02055.hp1
HG02615.hp2
HG03453.hp1
others(5): Show 
HG02055.hp1
HG02615.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA19240.hp1
 intron_variant MODIFIER c.450+3444A>T
c.450+3444A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666393
chr2:232666524 C
C
 T
T
 140 a0001c0001t0002g0200
a0001c0001t0004g0031
a0001c0001t0010g0298
others(137): Show 
a0001c0001t0002g0200
a0001c0001t0004g0031
a0001c0001t0010g0298
a0001c0001t0013g0039
a0001c0004t0002g0262
a0001c0004t0006g0191
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0109
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 147 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(144): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.450+3575C>T
c.450+3575C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666524
chr2:232666677 C
C
 T
T
 1 a0001c0001t0002g0013
a0001c0001t0002g0013
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.450+3728C>T
c.450+3728C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666677
chr2:232666842 T
T
 C
C
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.450+3893T>C
c.450+3893T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666842
chr2:232666854 C
C
 T
T
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.450+3905C>T
c.450+3905C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666854
chr2:232666893 A
A
 G
G
 1 a0001c0011t0003g0043
a0001c0011t0003g0043
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.450+3944A>G
c.450+3944A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666893
chr2:232666934 G
G
 A
A
 2 a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0277
a0001c0001t0006g0278
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.450+3985G>A
c.450+3985G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232666934
chr2:232667010 T
T
 C
C
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.450+4061T>C
c.450+4061T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667010
chr2:232667019 C
C
 G
G
 1 a0002c0003t0001g0086
a0002c0003t0001g0086
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.450+4070C>G
c.450+4070C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667019
chr2:232667182 A
A
 G
G
 2 a0002c0002t0001g0314
a0002c0003t0001g0162
a0002c0002t0001g0314
a0002c0003t0001g0162
 2 HG00544.hp1
NA19087.hp1
HG00544.hp1
NA19087.hp1
 intron_variant MODIFIER c.450+4233A>G
c.450+4233A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667182
chr2:232667288 C
C
 T
T
 2 a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0205
a0002c0002t0001g0206
 2 HG02056.hp2
HG04184.hp2
HG02056.hp2
HG04184.hp2
 intron_variant MODIFIER c.450+4339C>T
c.450+4339C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667288
chr2:232667525 T
T
 TTTAA
TTTAA
 11 a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0266
others(8): Show 
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0007g0291
a0001c0001t0007g0296
a0001c0001t0007g0305
a0001c0001t0009g0271
 11 HG02145.hp2
HG02572.hp1
HG02622.hp1
others(8): Show 
HG02145.hp2
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03209.hp1
NA19030.hp1
 intron_variant MODIFIER c.450+4591_450+4594d
others(6): Show 
c.450+4591_450+4594dupAATT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232667525
chr2:232667540 A
A
 AATTT
AATTT
 6 a0001c0001t0003g0237
a0001c0001t0003g0357
a0001c0001t0007g0002
others(3): Show 
a0001c0001t0003g0237
a0001c0001t0003g0357
a0001c0001t0007g0002
a0001c0001t0007g0295
a0001c0011t0003g0043
a0002c0003t0001g0146
 8 HG01884.hp2
HG02145.hp1
HG02280.hp2
others(5): Show 
HG01884.hp2
HG02145.hp1
HG02280.hp2
HG02809.hp1
HG03453.hp2
HG03486.hp2
HG04199.hp2
NA21309.hp1
 intron_variant MODIFIER c.450+4616_450+4619d
others(6): Show 
c.450+4616_450+4619dupATTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232667540
chr2:232667540 A
A
 T
T
 25 a0001c0001t0001g0048
a0001c0001t0002g0334
a0001c0001t0002g0349
others(22): Show 
a0001c0001t0001g0048
a0001c0001t0002g0334
a0001c0001t0002g0349
a0001c0001t0003g0228
a0001c0001t0003g0238
a0001c0001t0003g0241
a0001c0001t0003g0250
a0001c0001t0005g0300
a0001c0001t0010g0301
a0001c0004t0002g0016
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0174
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0003t0001g0004
a0002c0003t0001g0069
a0002c0003t0001g0137
a0004c0007t0001g0218
a0005c0008t0001g0022
a0006c0012t0001g0100
 29 HG00323.hp2
HG01074.hp1
HG01081.hp2
others(26): Show 
HG00323.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01167.hp2
HG01261.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG02155.hp2
HG02559.hp1
HG02735.hp1
HG02965.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03710.hp2
HG04228.hp1
HG06807.hp1
NA18941.hp1
NA18942.hp1
NA18951.hp2
NA18986.hp2
NA19003.hp1
NA19009.hp2
NA19043.hp1
NA19055.hp1
NA19074.hp2
NA19081.hp2
 intron_variant MODIFIER c.450+4591A>T
c.450+4591A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667540
chr2:232667544 T
T
 A
A
 183 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(180): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0002g0178
a0001c0001t0002g0219
a0001c0001t0002g0324
a0001c0001t0002g0332
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0056
a0001c0001t0003g0244
a0001c0001t0003g0248
a0001c0001t0003g0268
a0001c0001t0003g0335
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0026
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0016g0216
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0001g0223
a0001c0004t0002g0114
a0001c0004t0002g0139
a0001c0004t0002g0262
a0001c0004t0003g0071
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0184
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0230
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0002c0002t0001g0011
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0055
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0155
a0002c0002t0001g0175
a0002c0002t0001g0201
a0002c0002t0001g0205
a0002c0002t0001g0213
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0348
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0022g0263
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0091
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0006g0058
a0003c0005t0011g0023
a0007c0010t0001g0346
 187 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(184): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18962.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18975.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.450+4595T>A
c.450+4595T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667544
chr2:232667548 T
T
 A
A
 50 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
others(47): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0002g0222
a0001c0001t0003g0335
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0338
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0286
a0001c0001t0005g0297
a0001c0001t0006g0030
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0016g0216
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0262
a0001c0004t0004g0152
a0001c0004t0004g0168
a0001c0004t0006g0191
a0002c0002t0001g0055
a0002c0002t0001g0280
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0348
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0022g0263
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0107
a0002c0003t0001g0120
a0002c0003t0001g0150
a0002c0003t0001g0220
a0002c0003t0014g0116
a0003c0005t0001g0028
a0003c0005t0006g0058
 51 HG00438.hp1
HG00597.hp1
HG00642.hp1
others(48): Show 
HG00438.hp1
HG00597.hp1
HG00642.hp1
HG01099.hp1
HG01106.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01884.hp1
HG02109.hp1
HG02132.hp2
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp2
HG03942.hp1
HG04184.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18947.hp1
NA18950.hp1
NA18971.hp1
NA18981.hp2
NA18998.hp1
NA19043.hp2
NA19056.hp2
NA19065.hp1
NA19085.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.450+4599T>A
c.450+4599T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667548
chr2:232667552 T
T
 A
A
 11 a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0077
others(8): Show 
a0001c0001t0001g0012
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0007g0290
a0001c0004t0001g0057
a0001c0004t0001g0167
a0001c0004t0002g0262
a0002c0002t0022g0263
a0003c0005t0001g0028
 11 HG01099.hp1
HG01106.hp2
HG01346.hp1
others(8): Show 
HG01099.hp1
HG01106.hp2
HG01346.hp1
HG02257.hp1
HG02683.hp2
HG03098.hp2
HG03540.hp1
HG03942.hp1
NA18522.hp1
NA18522.hp2
NA18998.hp1
 intron_variant MODIFIER c.450+4603T>A
c.450+4603T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667552
chr2:232667609 A
A
 G
G
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.450+4660A>G
c.450+4660A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667609
chr2:232667713 C
C
 T
T
 37 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(34): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 37 HG00323.hp1
HG00408.hp2
HG00544.hp2
others(34): Show 
HG00323.hp1
HG00408.hp2
HG00544.hp2
HG00597.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.451-4596C>T
c.451-4596C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667713
chr2:232667857 G
G
 C
C
 304 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
others(301): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0228
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 313 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(310): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.451-4452G>C
c.451-4452G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232667857
chr2:232668107 T
T
 C
C
 1 a0001c0001t0003g0234
a0001c0001t0003g0234
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.451-4202T>C
c.451-4202T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668107
chr2:232668152 C
C
 T
T
 5 a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
others(2): Show 
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0212
 5 HG02135.hp1
NA18962.hp1
NA18970.hp2
others(2): Show 
HG02135.hp1
NA18962.hp1
NA18970.hp2
NA19004.hp1
NA19055.hp2
 intron_variant MODIFIER c.451-4157C>T
c.451-4157C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668152
chr2:232668394 C
C
 T
T
 3 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
 3 HG03041.hp1
HG03579.hp2
HG06807.hp2
HG03041.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.451-3915C>T
c.451-3915C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668394
chr2:232668492 C
C
 T
T
 57 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
others(54): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0308
a0001c0001t0001g0356
a0001c0001t0003g0228
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0011g0038
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0156
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0003c0005t0001g0028
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0008c0013t0001g0027
 59 HG01106.hp2
HG01109.hp2
HG01243.hp1
others(56): Show 
HG01106.hp2
HG01109.hp2
HG01243.hp1
HG01346.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03942.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18981.hp2
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.451-3817C>T
c.451-3817C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668492
chr2:232668549 G
G
 A
A
 1 a0002c0003t0001g0146
a0002c0003t0001g0146
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.451-3760G>A
c.451-3760G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668549
chr2:232668581 G
G
 C
C
 1 a0001c0004t0001g0167
a0001c0004t0001g0167
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.451-3728G>C
c.451-3728G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668581
chr2:232668619 T
T
 C
C
 8 a0001c0001t0003g0056
a0001c0001t0003g0245
a0001c0001t0003g0335
others(5): Show 
a0001c0001t0003g0056
a0001c0001t0003g0245
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0003g0111
 8 HG00609.hp2
HG01361.hp2
HG01993.hp2
others(5): Show 
HG00609.hp2
HG01361.hp2
HG01993.hp2
HG02027.hp1
HG02148.hp2
HG02293.hp1
NA18962.hp2
NA19089.hp1
 intron_variant MODIFIER c.451-3690T>C
c.451-3690T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668619
chr2:232668620 G
G
 A
A
 1 a0002c0002t0001g0147
a0002c0002t0001g0147
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.451-3689G>A
c.451-3689G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668620
chr2:232668683 G
G
 A
A
 6 a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
others(3): Show 
a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0365
a0001c0006t0005g0366
 6 HG01891.hp2
HG02615.hp1
HG02965.hp1
others(3): Show 
HG01891.hp2
HG02615.hp1
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.451-3626G>A
c.451-3626G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668683
chr2:232668756 C
C
 T
T
 25 a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
others(22): Show 
a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0003c0005t0006g0058
a0003c0005t0006g0259
 26 HG01109.hp2
HG01243.hp1
HG01891.hp1
others(23): Show 
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.451-3553C>T
c.451-3553C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668756
chr2:232668821 A
A
 G
G
 144 a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0009t0005g0299
others(141): Show 
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 151 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(148): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG03139.hp2
HG03239.hp1
HG03492.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.451-3488A>G
c.451-3488A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668821
chr2:232668876 C
C
 T
T
 1 a0002c0002t0001g0045
a0002c0002t0001g0045
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.451-3433C>T
c.451-3433C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668876
chr2:232668904 G
G
 T
T
 2 a0002c0002t0005g0292
a0002c0003t0001g0120
a0002c0002t0005g0292
a0002c0003t0001g0120
 2 HG01884.hp1
HG03139.hp2
HG01884.hp1
HG03139.hp2
 intron_variant MODIFIER c.451-3405G>T
c.451-3405G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232668904
chr2:232669116 G
G
 A
A
 1 a0001c0004t0004g0104
a0001c0004t0004g0104
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.451-3193G>A
c.451-3193G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669116
chr2:232669139 G
G
 T
T
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.451-3170G>T
c.451-3170G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669139
chr2:232669187 T
T
 C
C
 1 a0002c0003t0001g0125
a0002c0003t0001g0125
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.451-3122T>C
c.451-3122T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669187
chr2:232669243 T
T
 G
G
 1 a0002c0002t0001g0044
a0002c0002t0001g0044
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.451-3066T>G
c.451-3066T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669243
chr2:232669262 C
C
 T
T
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.451-3047C>T
c.451-3047C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669262
chr2:232669383 G
G
 A
A
 2 a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0207
a0001c0004t0004g0208
 2 NA18969.hp2
NA18971.hp2
NA18969.hp2
NA18971.hp2
 intron_variant MODIFIER c.451-2926G>A
c.451-2926G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669383
chr2:232669602 C
C
 CT
CT
 139 a0001c0001t0003g0008
a0001c0001t0003g0037
a0001c0001t0003g0235
others(136): Show 
a0001c0001t0003g0008
a0001c0001t0003g0037
a0001c0001t0003g0235
a0001c0001t0003g0243
a0001c0001t0003g0251
a0001c0001t0003g0357
a0001c0001t0005g0297
a0001c0004t0002g0161
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 146 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(143): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.451-2690dupT
c.451-2690dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232669602
chr2:232669602 C
C
 CTT
CTT
 8 a0002c0002t0001g0147
a0002c0002t0001g0202
a0002c0002t0001g0255
others(5): Show 
a0002c0002t0001g0147
a0002c0002t0001g0202
a0002c0002t0001g0255
a0002c0002t0001g0316
a0002c0002t0005g0302
a0002c0003t0001g0059
a0004c0007t0001g0006
a0004c0007t0001g0217
 9 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(6): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp2
HG02602.hp1
NA18942.hp1
NA19010.hp2
NA19083.hp1
 intron_variant MODIFIER c.451-2691_451-2690d
others(4): Show 
c.451-2691_451-2690dupTT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232669602
chr2:232669602 CT
CT
 C
C
 32 a0001c0001t0002g0200
a0001c0001t0004g0158
a0001c0001t0004g0176
others(29): Show 
a0001c0001t0002g0200
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0303
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18988.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
NA20805.hp1
 intron_variant MODIFIER c.451-2690delT
c.451-2690delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232669602
chr2:232669607 T
T
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0356
a0001c0001t0001g0024
a0001c0001t0001g0356
 2 HG03579.hp2
HG06807.hp2
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.451-2702T>C
c.451-2702T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669607
chr2:232669657 A
A
 G
G
 1 a0001c0009t0005g0299
a0001c0009t0005g0299
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.451-2652A>G
c.451-2652A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669657
chr2:232669688 C
C
 T
T
 6 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
others(3): Show 
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0003g0228
a0001c0001t0011g0038
a0003c0005t0011g0023
 6 HG02723.hp1
HG03041.hp1
HG03225.hp1
others(3): Show 
HG02723.hp1
HG03041.hp1
HG03225.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.451-2621C>T
c.451-2621C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669688
chr2:232669897 C
C
 T
T
 1 a0001c0004t0003g0094
a0001c0004t0003g0094
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.451-2412C>T
c.451-2412C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669897
chr2:232669966 G
G
 A
A
 136 a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
others(133): Show 
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 143 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(140): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.451-2343G>A
c.451-2343G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669966
chr2:232669968 A
A
 G
G
 2 a0001c0001t0002g0334
a0001c0001t0002g0349
a0001c0001t0002g0334
a0001c0001t0002g0349
 2 NA19074.hp2
NA19081.hp2
NA19074.hp2
NA19081.hp2
 intron_variant MODIFIER c.451-2341A>G
c.451-2341A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232669968
chr2:232670102 T
T
 A
A
 2 a0002c0003t0001g0112
a0002c0003t0014g0116
a0002c0003t0001g0112
a0002c0003t0014g0116
 2 HG03831.hp2
NA18941.hp2
HG03831.hp2
NA18941.hp2
 intron_variant MODIFIER c.451-2207T>A
c.451-2207T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232670102
chr2:232670305 A
A
 G
G
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.451-2004A>G
c.451-2004A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232670305
chr2:232670346 C
C
 T
T
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.451-1963C>T
c.451-1963C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232670346
chr2:232670362 A
A
 G
G
 1 a0001c0004t0004g0168
a0001c0004t0004g0168
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.451-1947A>G
c.451-1947A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232670362
chr2:232670440 CA
CA
 C
C
 50 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
others(47): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0002g0326
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0002c0002t0001g0327
a0003c0005t0001g0028
 51 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(48): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG01106.hp2
HG01346.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp2
HG02683.hp2
HG02698.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03942.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18981.hp2
NA18989.hp1
NA18998.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp1
 intron_variant MODIFIER c.451-1858delA
c.451-1858delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232670440
chr2:232670571 A
A
 G
G
 1 a0001c0004t0002g0130
a0001c0004t0002g0130
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.451-1738A>G
c.451-1738A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232670571
chr2:232670576 C
C
 T
T
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.451-1733C>T
c.451-1733C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232670576
chr2:232670661 T
T
 TA
TA
 137 a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
others(134): Show 
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 144 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(141): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG03139.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.451-1637dupA
c.451-1637dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232670661
chr2:232670661 TA
TA
 T
T
 10 a0001c0001t0001g0052
a0001c0001t0002g0326
a0001c0001t0002g0332
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0005g0364
a0001c0001t0012g0351
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 10 HG01891.hp2
HG02293.hp2
HG02965.hp1
others(7): Show 
HG01891.hp2
HG02293.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA18954.hp1
NA19043.hp1
NA19056.hp1
NA19062.hp2
NA19240.hp2
 intron_variant MODIFIER c.451-1637delA
c.451-1637delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232670661
chr2:232670875 G
G
 A
A
 31 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(28): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0003c0005t0006g0058
a0003c0005t0006g0259
 32 HG00544.hp2
HG01109.hp2
HG01243.hp1
others(29): Show 
HG00544.hp2
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02083.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.451-1434G>A
c.451-1434G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232670875
chr2:232671418 C
C
 A
A
 1 a0001c0004t0002g0225
a0001c0004t0002g0225
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.451-891C>A
c.451-891C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232671418
chr2:232671500 C
C
 T
T
 1 a0002c0003t0001g0070
a0002c0003t0001g0070
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.451-809C>T
c.451-809C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232671500
chr2:232671666 G
G
 T
T
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.451-643G>T
c.451-643G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232671666
chr2:232671823 G
G
 A
A
 1 a0002c0003t0001g0109
a0002c0003t0001g0109
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.451-486G>A
c.451-486G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232671823
chr2:232671913 C
C
 T
T
 33 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(30): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 33 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(30): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.451-396C>T
c.451-396C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232671913
chr2:232672005 G
G
 A
A
 1 a0002c0002t0001g0363
a0002c0002t0001g0363
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.451-304G>A
c.451-304G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232672005
chr2:232672055 C
C
 CA
CA
 9 a0001c0001t0001g0033
a0001c0001t0004g0344
a0001c0001t0005g0010
others(6): Show 
a0001c0001t0001g0033
a0001c0001t0004g0344
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0293
a0001c0004t0001g0182
a0002c0003t0001g0151
a0005c0008t0001g0022
 10 HG01433.hp2
HG02055.hp1
HG02056.hp1
others(7): Show 
HG01433.hp2
HG02055.hp1
HG02056.hp1
HG02615.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
NA18939.hp1
NA19240.hp1
 intron_variant MODIFIER c.451-239dupA
c.451-239dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 INFO_REALIGN_3_PRIME chr2 232672055
chr2:232672090 C
C
 G
G
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.451-219C>G
c.451-219C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232672090
chr2:232672140 G
G
 T
T
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.451-169G>T
c.451-169G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232672140
chr2:232672160 A
A
 G
G
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.451-149A>G
c.451-149A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232672160
chr2:232672216 T
T
 C
C
 142 a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
others(139): Show 
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 149 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(146): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG03139.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.451-93T>C
c.451-93T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 2/3 chr2 232672216
chr2:232672767 A
A
 G
G
 287 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
others(284): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0028
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 296 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(293): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.585+324A>G
c.585+324A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232672767
chr2:232672873 C
C
 T
T
 7 a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
others(4): Show 
a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 7 HG01891.hp2
HG02615.hp1
HG02965.hp1
others(4): Show 
HG01891.hp2
HG02615.hp1
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.585+430C>T
c.585+430C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232672873
chr2:232673004 G
G
 A
A
 58 a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
others(55): Show 
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0003c0005t0001g0017
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
 58 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(55): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp2
HG02132.hp1
HG02735.hp1
HG03139.hp1
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA18973.hp1
NA18979.hp2
NA18983.hp1
NA18988.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18995.hp2
NA19009.hp1
NA19012.hp2
NA19055.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.585+561G>A
c.585+561G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232673004
chr2:232673103 C
C
 T
T
 8 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
others(5): Show 
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0003g0008
a0001c0001t0003g0228
a0001c0001t0003g0235
a0001c0001t0003g0243
a0001c0001t0003g0251
 9 HG01261.hp1
HG02451.hp1
HG03041.hp1
others(6): Show 
HG01261.hp1
HG02451.hp1
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.585+660C>T
c.585+660C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232673103
chr2:232673374 G
G
 C
C
 3 a0002c0002t0001g0174
a0002c0002t0001g0180
a0002c0002t0001g0229
a0002c0002t0001g0174
a0002c0002t0001g0180
a0002c0002t0001g0229
 3 HG00099.hp1
HG01261.hp2
HG02559.hp1
HG00099.hp1
HG01261.hp2
HG02559.hp1
 intron_variant MODIFIER c.585+931G>C
c.585+931G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232673374
chr2:232673590 T
T
 C
C
 60 a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
others(57): Show 
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0002c0002t0001g0233
a0002c0003t0001g0126
a0003c0005t0001g0017
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
 60 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(57): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00735.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp2
HG02132.hp1
HG02258.hp1
HG02735.hp1
HG03139.hp1
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA18973.hp1
NA18979.hp2
NA18983.hp1
NA18988.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18995.hp2
NA19009.hp1
NA19012.hp2
NA19055.hp1
NA19062.hp2
NA19074.hp2
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.585+1147T>C
c.585+1147T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232673590
chr2:232673682 G
G
 T
T
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+1239G>T
c.585+1239G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232673682
chr2:232673766 C
C
 T
T
 7 a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
others(4): Show 
a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 7 HG01891.hp2
HG02615.hp1
HG02965.hp1
others(4): Show 
HG01891.hp2
HG02615.hp1
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.585+1323C>T
c.585+1323C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232673766
chr2:232673907 C
C
 CT
CT
 86 a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
others(83): Show 
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0225
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0191
a0002c0002t0001g0226
a0002c0002t0001g0233
a0002c0003t0001g0126
a0002c0003t0001g0260
a0003c0005t0001g0017
a0003c0005t0002g0018
a0003c0005t0002g0060
 86 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(83): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00735.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02258.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG03041.hp2
HG03098.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18967.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18979.hp2
NA18981.hp1
NA18983.hp1
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18995.hp2
NA18998.hp2
NA19009.hp1
NA19012.hp1
NA19055.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp2
NA19077.hp2
NA19081.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.585+1483dupT
c.585+1483dupT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232673907
chr2:232673907 CT
CT
 C
C
 6 a0001c0001t0001g0036
a0001c0004t0001g0156
a0001c0004t0003g0111
others(3): Show 
a0001c0001t0001g0036
a0001c0004t0001g0156
a0001c0004t0003g0111
a0002c0002t0005g0292
a0003c0005t0006g0058
a0003c0005t0006g0259
 6 HG01884.hp1
HG02258.hp2
HG02965.hp2
others(3): Show 
HG01884.hp1
HG02258.hp2
HG02965.hp2
HG03540.hp2
NA18522.hp2
NA19089.hp1
 intron_variant MODIFIER c.585+1483delT
c.585+1483delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232673907
chr2:232673977 T
T
 C
C
 37 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(34): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 37 HG00323.hp1
HG00408.hp2
HG00544.hp2
others(34): Show 
HG00323.hp1
HG00408.hp2
HG00544.hp2
HG00597.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+1534T>C
c.585+1534T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232673977
chr2:232674033 T
T
 C
C
 25 a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
others(22): Show 
a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0003c0005t0006g0058
a0003c0005t0006g0259
 26 HG01109.hp2
HG01243.hp1
HG01891.hp1
others(23): Show 
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.585+1590T>C
c.585+1590T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674033
chr2:232674065 C
C
 T
T
 37 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(34): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 37 HG00323.hp1
HG00408.hp2
HG00544.hp2
others(34): Show 
HG00323.hp1
HG00408.hp2
HG00544.hp2
HG00597.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+1622C>T
c.585+1622C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674065
chr2:232674109 A
A
 G
G
 17 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
others(14): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0002c0003t0001g0146
a0003c0005t0001g0028
 18 HG01106.hp2
HG01346.hp1
HG02055.hp1
others(15): Show 
HG01106.hp2
HG01346.hp1
HG02055.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02683.hp2
HG02965.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
HG03942.hp1
HG04199.hp2
NA18522.hp2
NA18981.hp2
NA18998.hp1
NA19240.hp1
 intron_variant MODIFIER c.585+1666A>G
c.585+1666A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674109
chr2:232674158 C
C
 T
T
 37 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(34): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 37 HG00323.hp1
HG00408.hp2
HG00544.hp2
others(34): Show 
HG00323.hp1
HG00408.hp2
HG00544.hp2
HG00597.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+1715C>T
c.585+1715C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674158
chr2:232674301 T
T
 G
G
 7 a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
others(4): Show 
a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 7 HG01891.hp2
HG02615.hp1
HG02965.hp1
others(4): Show 
HG01891.hp2
HG02615.hp1
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.585+1858T>G
c.585+1858T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674301
chr2:232674373 C
C
 T
T
 1 a0002c0002t0001g0280
a0002c0002t0001g0280
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.585+1930C>T
c.585+1930C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674373
chr2:232674523 C
C
 T
T
 6 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
others(3): Show 
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0003g0228
a0001c0001t0011g0038
a0003c0005t0011g0023
 6 HG02723.hp1
HG03041.hp1
HG03225.hp1
others(3): Show 
HG02723.hp1
HG03041.hp1
HG03225.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.585+2080C>T
c.585+2080C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674523
chr2:232674830 G
G
 A
A
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.585+2387G>A
c.585+2387G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674830
chr2:232674870 A
A
 G
G
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+2427A>G
c.585+2427A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674870
chr2:232674955 A
A
 C
C
 1 a0001c0001t0021g0272
a0001c0001t0021g0272
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.585+2512A>C
c.585+2512A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232674955
chr2:232675118 G
G
 A
A
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+2675G>A
c.585+2675G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232675118
chr2:232675180 G
G
 A
A
 1 a0002c0003t0001g0099
a0002c0003t0001g0099
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.585+2737G>A
c.585+2737G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232675180
chr2:232675187 A
A
 AAAAG
AAAAG
 298 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
others(295): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0228
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 307 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(304): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.585+2745_585+2746i
others(6): Show 
c.585+2745_585+2746insAAGA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232675187
chr2:232675187 A
A
 G
G
 1 a0002c0003t0001g0099
a0002c0003t0001g0099
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.585+2744A>G
c.585+2744A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232675187
chr2:232675203 A
A
 AAAGG
AAAGG
 60 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(57): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0003c0005t0006g0058
a0003c0005t0006g0259
 61 HG00323.hp1
HG00408.hp2
HG00544.hp2
others(58): Show 
HG00323.hp1
HG00408.hp2
HG00544.hp2
HG00597.hp1
HG01109.hp2
HG01891.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03540.hp2
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp2
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19012.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.585+2778_585+2781d
others(6): Show 
c.585+2778_585+2781dupAGGA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232675203
chr2:232675246 G
G
 GAAAGA
GAAAGA
 27 a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0052
others(24): Show 
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0290
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0003c0005t0006g0058
a0003c0005t0006g0259
 28 HG00544.hp2
HG01109.hp2
HG01891.hp1
others(25): Show 
HG00544.hp2
HG01109.hp2
HG01891.hp1
HG02083.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03225.hp2
HG03540.hp2
NA18906.hp2
NA18999.hp1
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.585+2826_585+2830d
others(7): Show 
c.585+2826_585+2830dupAGAAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232675246
chr2:232675246 G
G
 GAAAGAAA
others(3): Show 
GAAAGAAAAGA
 1 a0001c0001t0008g0294
a0001c0001t0008g0294
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.585+2821_585+2830d
others(12): Show 
c.585+2821_585+2830dupAGAAAAGAAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232675246
chr2:232675246 GAAAGA
GAAAGA
 G
G
 171 a0001c0001t0002g0252
a0001c0001t0003g0244
a0001c0001t0004g0158
others(168): Show 
a0001c0001t0002g0252
a0001c0001t0003g0244
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 178 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(175): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03492.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.585+2826_585+2830d
others(7): Show 
c.585+2826_585+2830delAGAAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232675246
chr2:232675556 C
C
 T
T
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.585+3113C>T
c.585+3113C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232675556
chr2:232675664 G
G
 T
T
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+3221G>T
c.585+3221G>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232675664
chr2:232675887 C
C
 A
A
 3 a0001c0001t0020g0276
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0001t0020g0276
a0001c0004t0004g0163
a0001c0004t0004g0164
 3 HG03041.hp2
HG03098.hp1
NA18906.hp1
HG03041.hp2
HG03098.hp1
NA18906.hp1
 intron_variant MODIFIER c.585+3444C>A
c.585+3444C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232675887
chr2:232675899 A
A
 G
G
 1 a0001c0001t0001g0308
a0001c0001t0001g0308
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.585+3456A>G
c.585+3456A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232675899
chr2:232676071 G
G
 C
C
 2 a0001c0001t0010g0298
a0001c0004t0002g0262
a0001c0001t0010g0298
a0001c0004t0002g0262
 2 HG03098.hp2
HG03209.hp2
HG03098.hp2
HG03209.hp2
 intron_variant MODIFIER c.585+3628G>C
c.585+3628G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676071
chr2:232676103 A
A
 G
G
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+3660A>G
c.585+3660A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676103
chr2:232676145 A
A
 C
C
 1 a0002c0003t0001g0101
a0002c0003t0001g0101
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.585+3702A>C
c.585+3702A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676145
chr2:232676153 C
C
 T
T
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.585+3710C>T
c.585+3710C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676153
chr2:232676166 C
C
 T
T
 1 a0003c0005t0002g0015
a0003c0005t0002g0015
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.585+3723C>T
c.585+3723C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676166
chr2:232676199 C
C
 T
T
 238 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
others(235): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0003g0228
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0028
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 247 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(244): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.585+3756C>T
c.585+3756C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676199
chr2:232676283 G
G
 C
C
 7 a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
others(4): Show 
a0001c0001t0004g0031
a0001c0001t0005g0364
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
 7 HG01891.hp2
HG02615.hp1
HG02965.hp1
others(4): Show 
HG01891.hp2
HG02615.hp1
HG02965.hp1
HG03130.hp2
HG03195.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.585+3840G>C
c.585+3840G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676283
chr2:232676366 G
G
 A
A
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+3923G>A
c.585+3923G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676366
chr2:232676407 C
C
 T
T
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.585+3964C>T
c.585+3964C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676407
chr2:232676408 G
G
 A
A
 2 a0001c0004t0001g0057
a0003c0005t0001g0029
a0001c0004t0001g0057
a0003c0005t0001g0029
 2 HG01099.hp1
HG03831.hp1
HG01099.hp1
HG03831.hp1
 intron_variant MODIFIER c.585+3965G>A
c.585+3965G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676408
chr2:232676501 A
A
 G
G
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.585+4058A>G
c.585+4058A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676501
chr2:232676524 C
C
 T
T
 1 a0001c0001t0002g0222
a0001c0001t0002g0222
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.585+4081C>T
c.585+4081C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676524
chr2:232676525 G
G
 A
A
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.585+4082G>A
c.585+4082G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676525
chr2:232676545 G
G
 A
A
 322 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(319): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0007g0002
a0001c0001t0007g0290
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0305
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0009g0273
a0001c0001t0009g0274
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0016g0216
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0001c0011t0003g0043
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 333 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(330): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
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
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.585+4102G>A
c.585+4102G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676545
chr2:232676685 A
A
 C
C
 2 a0001c0001t0013g0039
a0001c0004t0001g0167
a0001c0001t0013g0039
a0001c0004t0001g0167
 2 HG03195.hp1
NA18998.hp1
HG03195.hp1
NA18998.hp1
 intron_variant MODIFIER c.585+4242A>C
c.585+4242A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676685
chr2:232676842 A
A
 G
G
 5 a0001c0001t0006g0097
a0001c0001t0008g0294
a0001c0001t0021g0272
others(2): Show 
a0001c0001t0006g0097
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0004t0006g0041
a0001c0004t0006g0042
 5 HG02630.hp1
HG02922.hp2
HG03130.hp1
others(2): Show 
HG02630.hp1
HG02922.hp2
HG03130.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.585+4399A>G
c.585+4399A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676842
chr2:232676914 T
T
 G
G
 9 a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
others(6): Show 
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0041
a0001c0004t0006g0042
a0003c0005t0006g0058
 9 HG01109.hp2
HG02258.hp2
HG02622.hp2
others(6): Show 
HG01109.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02886.hp1
HG02922.hp2
HG03130.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.585+4471T>G
c.585+4471T>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676914
chr2:232676952 A
A
 G
G
 1 a0001c0004t0001g0221
a0001c0004t0001g0221
 1 NA18981.hp2
NA18981.hp2
 intron_variant MODIFIER c.585+4509A>G
c.585+4509A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676952
chr2:232676985 G
G
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0265
a0001c0001t0001g0019
a0001c0001t0001g0265
 2 HG03540.hp1
NA20300.hp2
HG03540.hp1
NA20300.hp2
 intron_variant MODIFIER c.585+4542G>A
c.585+4542G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232676985
chr2:232677000 TAAAACAA
others(3): Show 
TAAAACAAAAC
 T
T
 15 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
others(12): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0004t0001g0156
a0001c0004t0001g0182
a0001c0004t0001g0221
a0003c0005t0001g0028
 16 HG01106.hp2
HG01346.hp1
HG02055.hp1
others(13): Show 
HG01106.hp2
HG01346.hp1
HG02055.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02683.hp2
HG02965.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp2
NA18981.hp2
NA19240.hp1
 intron_variant MODIFIER c.586-4570_586-4561d
others(12): Show 
c.586-4570_586-4561delCAAAACAAAA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677000
chr2:232677015 C
C
 T
T
 1 a0002c0002t0001g0155
a0002c0002t0001g0155
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.586-4570C>T
c.586-4570C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677015
chr2:232677075 C
C
 A
A
 1 a0001c0001t0003g0235
a0001c0001t0003g0235
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.586-4510C>A
c.586-4510C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677075
chr2:232677081 A
A
 G
G
 40 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(37): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0001g0167
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 40 HG00323.hp1
HG00408.hp2
HG00544.hp2
others(37): Show 
HG00323.hp1
HG00408.hp2
HG00544.hp2
HG00597.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-4504A>G
c.586-4504A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677081
chr2:232677207 T
T
 TAC
TAC
 37 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
others(34): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0356
a0001c0001t0002g0142
a0001c0001t0003g0228
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0297
a0001c0001t0005g0364
a0001c0001t0007g0002
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0305
a0001c0001t0009g0271
a0001c0001t0010g0306
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0003c0005t0001g0028
 40 HG00280.hp1
HG00733.hp1
HG01106.hp2
others(37): Show 
HG00280.hp1
HG00733.hp1
HG01106.hp2
HG01346.hp1
HG01891.hp2
HG02055.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp1
HG06807.hp2
NA18522.hp2
NA18998.hp1
NA19043.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.586-4345_586-4344d
others(4): Show 
c.586-4345_586-4344dupAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACAC
TACAC
 53 a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
others(50): Show 
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0323
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0357
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0010g0301
a0001c0001t0011g0038
a0001c0001t0016g0216
a0001c0004t0001g0057
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0002c0002t0001g0233
a0002c0003t0001g0126
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0029
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0011g0023
 53 HG00423.hp1
HG00558.hp1
HG00621.hp1
others(50): Show 
HG00423.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01099.hp1
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02723.hp1
HG02735.hp1
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp1
NA18954.hp1
NA18967.hp1
NA18970.hp1
NA18972.hp1
NA18973.hp1
NA18983.hp1
NA18988.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA19009.hp1
NA19030.hp1
NA19062.hp2
NA19088.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.586-4347_586-4344d
others(6): Show 
c.586-4347_586-4344dupACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACAC
TACACAC
 24 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(21): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
a0001c0001t0002g0153
a0001c0001t0002g0181
a0001c0001t0002g0219
a0001c0001t0002g0252
a0001c0001t0002g0322
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0349
a0001c0001t0005g0264
a0001c0004t0001g0221
a0001c0004t0002g0127
a0001c0004t0002g0136
a0001c0004t0002g0161
a0001c0004t0002g0225
a0003c0005t0002g0015
 24 HG00140.hp2
HG00544.hp2
HG01106.hp1
others(21): Show 
HG00140.hp2
HG00544.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG02083.hp2
HG02293.hp2
HG03139.hp1
HG03942.hp2
NA18945.hp1
NA18948.hp1
NA18951.hp2
NA18957.hp2
NA18960.hp2
NA18979.hp2
NA18981.hp2
NA18994.hp1
NA18997.hp1
NA18999.hp1
NA19012.hp2
NA19074.hp2
NA19081.hp2
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.586-4349_586-4344d
others(8): Show 
c.586-4349_586-4344dupACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(1): Show 
TACACACAC
 5 a0001c0001t0001g0308
a0001c0001t0006g0269
a0001c0004t0002g0016
others(2): Show 
a0001c0001t0001g0308
a0001c0001t0006g0269
a0001c0004t0002g0016
a0001c0004t0004g0163
a0001c0004t0006g0191
 5 HG02572.hp2
HG02818.hp1
HG02818.hp2
others(2): Show 
HG02572.hp2
HG02818.hp1
HG02818.hp2
HG03041.hp2
NA19055.hp1
 intron_variant MODIFIER c.586-4351_586-4344d
others(10): Show 
c.586-4351_586-4344dupACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(3): Show 
TACACACACAC
 9 a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
others(6): Show 
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0004t0006g0009
a0003c0005t0006g0259
 10 HG01243.hp1
HG02280.hp1
HG02647.hp2
others(7): Show 
HG01243.hp1
HG02280.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG03225.hp2
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.586-4353_586-4344d
others(12): Show 
c.586-4353_586-4344dupACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 9 a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
others(6): Show 
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0008g0294
a0001c0001t0010g0298
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0041
a0001c0004t0006g0042
 9 HG01109.hp2
HG02630.hp1
HG02886.hp1
others(6): Show 
HG01109.hp2
HG02630.hp1
HG02886.hp1
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.586-4355_586-4344d
others(14): Show 
c.586-4355_586-4344dupACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(7): Show 
TACACACACACACAC
 6 a0001c0001t0006g0098
a0001c0001t0020g0276
a0001c0004t0004g0103
others(3): Show 
a0001c0001t0006g0098
a0001c0001t0020g0276
a0001c0004t0004g0103
a0001c0004t0004g0152
a0001c0004t0004g0164
a0003c0005t0006g0058
 6 HG02258.hp2
HG02622.hp2
HG03098.hp1
others(3): Show 
HG02258.hp2
HG02622.hp2
HG03098.hp1
NA18906.hp1
NA18950.hp1
NA19077.hp2
 intron_variant MODIFIER c.586-4357_586-4344d
others(16): Show 
c.586-4357_586-4344dupACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(9): Show 
TACACACACACACACAC
 1 a0001c0004t0004g0168
a0001c0004t0004g0168
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.586-4359_586-4344d
others(18): Show 
c.586-4359_586-4344dupACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(11): Show 
TACACACACACACACACAC
 1 a0001c0001t0004g0319
a0001c0001t0004g0319
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.586-4361_586-4344d
others(20): Show 
c.586-4361_586-4344dupACACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(13): Show 
TACACACACACACACACACAC
 4 a0001c0001t0004g0176
a0001c0001t0004g0329
a0001c0001t0004g0344
others(1): Show 
a0001c0001t0004g0176
a0001c0001t0004g0329
a0001c0001t0004g0344
a0001c0001t0004g0354
 4 HG02056.hp1
HG02129.hp1
HG02698.hp2
others(1): Show 
HG02056.hp1
HG02129.hp1
HG02698.hp2
NA19060.hp2
 intron_variant MODIFIER c.586-4363_586-4344d
others(22): Show 
c.586-4363_586-4344dupACACACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(15): Show 
TACACACACACACACACACACAC
 2 a0001c0001t0004g0320
a0001c0004t0004g0144
a0001c0001t0004g0320
a0001c0004t0004g0144
 2 NA18989.hp1
NA19083.hp2
NA18989.hp1
NA19083.hp2
 intron_variant MODIFIER c.586-4365_586-4344d
others(24): Show 
c.586-4365_586-4344dupACACACACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(17): Show 
TACACACACACACACACACACACAC
 6 a0001c0001t0004g0338
a0001c0004t0004g0064
a0001c0004t0004g0104
others(3): Show 
a0001c0001t0004g0338
a0001c0004t0004g0064
a0001c0004t0004g0104
a0001c0004t0004g0135
a0001c0004t0004g0169
a0001c0004t0004g0208
 6 HG00408.hp2
NA18942.hp2
NA18947.hp1
others(3): Show 
HG00408.hp2
NA18942.hp2
NA18947.hp1
NA18971.hp2
NA18972.hp2
NA18998.hp2
 intron_variant MODIFIER c.586-4367_586-4344d
others(26): Show 
c.586-4367_586-4344dupACACACACACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(19): Show 
TACACACACACACACACACACACACAC
 7 a0001c0001t0004g0353
a0001c0001t0004g0359
a0001c0001t0012g0351
others(4): Show 
a0001c0001t0004g0353
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0004t0004g0065
a0001c0004t0004g0105
a0001c0004t0004g0207
a0001c0004t0004g0230
 7 HG02523.hp1
HG02523.hp2
NA18747.hp2
others(4): Show 
HG02523.hp1
HG02523.hp2
NA18747.hp2
NA18969.hp2
NA19056.hp1
NA19060.hp1
NA19087.hp2
 intron_variant MODIFIER c.586-4369_586-4344d
others(28): Show 
c.586-4369_586-4344dupACACACACACACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(21): Show 
TACACACACACACACACACACACACACAC
 1 a0001c0001t0004g0177
a0001c0001t0004g0177
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.586-4371_586-4344d
others(30): Show 
c.586-4371_586-4344dupACACACACACACACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(23): Show 
TACACACACACACACACACACACACACACAC
 2 a0001c0001t0004g0352
a0001c0004t0004g0143
a0001c0001t0004g0352
a0001c0004t0004g0143
 2 NA18981.hp1
NA19012.hp1
NA18981.hp1
NA19012.hp1
 intron_variant MODIFIER c.586-4373_586-4344d
others(32): Show 
c.586-4373_586-4344dupACACACACACACACACACACACACACAC
AC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(25): Show 
TACACACACACACACACACACACACACACACAC
 1 a0001c0001t0004g0158
a0001c0001t0004g0158
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.586-4375_586-4344d
others(34): Show 
c.586-4375_586-4344dupACACACACACACACACACACACACACAC
ACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 T
T
 TACACACA
others(27): Show 
TACACACACACACACACACACACACACACACACAC
 1 a0001c0004t0004g0171
a0001c0004t0004g0171
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.586-4377_586-4344d
others(36): Show 
c.586-4377_586-4344dupACACACACACACACACACACACACACAC
ACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 TAC
TAC
 T
T
 5 a0001c0001t0003g0007
a0001c0001t0003g0234
a0001c0001t0003g0244
others(2): Show 
a0001c0001t0003g0007
a0001c0001t0003g0234
a0001c0001t0003g0244
a0001c0001t0003g0248
a0001c0001t0005g0293
 6 HG01070.hp2
HG01081.hp1
HG01256.hp2
others(3): Show 
HG01070.hp2
HG01081.hp1
HG01256.hp2
HG01258.hp2
HG02615.hp2
NA20905.hp2
 intron_variant MODIFIER c.586-4345_586-4344d
others(4): Show 
c.586-4345_586-4344delAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 TACACAC
TACACAC
 T
T
 7 a0002c0002t0001g0206
a0002c0002t0001g0342
a0002c0002t0005g0284
others(4): Show 
a0002c0002t0001g0206
a0002c0002t0001g0342
a0002c0002t0005g0284
a0002c0002t0017g0311
a0002c0003t0001g0124
a0002c0003t0001g0170
a0002c0003t0001g0220
 7 HG01975.hp1
HG01981.hp1
HG02056.hp2
others(4): Show 
HG01975.hp1
HG01981.hp1
HG02056.hp2
HG02809.hp2
NA18947.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.586-4349_586-4344d
others(8): Show 
c.586-4349_586-4344delACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 TACACACA
others(1): Show 
TACACACAC
 T
T
 131 a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
others(128): Show 
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 138 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(135): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02896.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.586-4351_586-4344d
others(10): Show 
c.586-4351_586-4344delACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 TACACACA
others(3): Show 
TACACACACAC
 T
T
 9 a0001c0001t0003g0056
a0001c0001t0003g0245
a0001c0001t0003g0335
others(6): Show 
a0001c0001t0003g0056
a0001c0001t0003g0245
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0004t0003g0061
a0001c0004t0003g0063
a0002c0002t0005g0292
a0002c0003t0001g0120
 9 HG00609.hp2
HG01361.hp2
HG01884.hp1
others(6): Show 
HG00609.hp2
HG01361.hp2
HG01884.hp1
HG01993.hp2
HG02027.hp1
HG02148.hp2
HG02293.hp1
HG03139.hp2
NA18962.hp2
 intron_variant MODIFIER c.586-4353_586-4344d
others(12): Show 
c.586-4353_586-4344delACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677207 TACACACA
others(15): Show 
TACACACACACACACACACACAC
 T
T
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.586-4365_586-4344d
others(24): Show 
c.586-4365_586-4344delACACACACACACACACACACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677207
chr2:232677210 A
A
 ACT
ACT
 13 a0001c0004t0001g0223
a0001c0004t0003g0071
a0001c0004t0003g0082
others(10): Show 
a0001c0004t0001g0223
a0001c0004t0003g0071
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0111
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
 13 HG00609.hp1
HG02135.hp2
NA18939.hp2
others(10): Show 
HG00609.hp1
HG02135.hp2
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA18995.hp1
NA19004.hp2
NA19081.hp1
NA19089.hp1
 intron_variant MODIFIER c.586-4374_586-4373i
others(4): Show 
c.586-4374_586-4373insTC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677210
chr2:232677212 A
A
 T
T
 1 a0001c0004t0003g0187
a0001c0004t0003g0187
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.586-4373A>T
c.586-4373A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677212
chr2:232677222 A
A
 T
T
 7 a0001c0001t0003g0056
a0001c0001t0003g0245
a0001c0001t0003g0335
others(4): Show 
a0001c0001t0003g0056
a0001c0001t0003g0245
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0004t0003g0061
a0001c0004t0003g0063
 7 HG00609.hp2
HG01361.hp2
HG01993.hp2
others(4): Show 
HG00609.hp2
HG01361.hp2
HG01993.hp2
HG02027.hp1
HG02148.hp2
HG02293.hp1
NA18962.hp2
 intron_variant MODIFIER c.586-4363A>T
c.586-4363A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677222
chr2:232677242 G
G
 A
A
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0002g0062
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18983.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-4343G>A
c.586-4343G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677242
chr2:232677243 T
T
 C
C
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-4342T>C
c.586-4342T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677243
chr2:232677264 AACACACA
others(3): Show 
AACACACACAT
 A
A
 23 a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
others(20): Show 
a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0003c0005t0006g0058
a0003c0005t0006g0259
 24 HG01109.hp2
HG01243.hp1
HG01891.hp1
others(21): Show 
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.586-4311_586-4302d
others(12): Show 
c.586-4311_586-4302delTACACACACA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677264
chr2:232677264 AACACACA
others(5): Show 
AACACACACATAC
 A
A
 1 a0001c0001t0006g0098
a0001c0001t0006g0098
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.586-4311_586-4300d
others(14): Show 
c.586-4311_586-4300delTACACACACACA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677264
chr2:232677264 AACACACA
others(7): Show 
AACACACACATACAC
 A
A
 1 a0001c0001t0008g0287
a0001c0001t0008g0287
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.586-4311_586-4298d
others(16): Show 
c.586-4311_586-4298delTACACACACACACA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677264
chr2:232677266 CACACACA
others(1): Show 
CACACACAT
 C
C
 33 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(30): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0004t0001g0167
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 33 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(30): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-4311_586-4304d
others(10): Show 
c.586-4311_586-4304delTACACACA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677266
chr2:232677270 CACAT
CACAT
 C
C
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.586-4311_586-4308d
others(6): Show 
c.586-4311_586-4308delTACA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677270
chr2:232677274 T
T
 TAC
TAC
 45 a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
others(42): Show 
a0001c0001t0003g0007
a0001c0001t0003g0008
a0001c0001t0003g0014
a0001c0001t0003g0056
a0001c0001t0003g0117
a0001c0001t0003g0231
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0238
a0001c0001t0003g0239
a0001c0001t0003g0240
a0001c0001t0003g0241
a0001c0001t0003g0242
a0001c0001t0003g0243
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0256
a0001c0001t0003g0335
a0001c0001t0003g0336
a0001c0001t0003g0360
a0001c0001t0007g0304
a0001c0004t0001g0223
a0001c0004t0003g0061
a0001c0004t0003g0063
a0001c0004t0003g0071
a0001c0004t0003g0082
a0001c0004t0003g0083
a0001c0004t0003g0094
a0001c0004t0003g0111
a0001c0004t0003g0183
a0001c0004t0003g0184
a0001c0004t0003g0185
a0001c0004t0003g0186
a0001c0004t0003g0187
a0001c0004t0003g0188
a0001c0004t0003g0190
a0001c0004t0003g0224
a0001c0004t0004g0081
a0001c0011t0003g0043
 47 HG00099.hp2
HG00609.hp1
HG00609.hp2
others(44): Show 
HG00099.hp2
HG00609.hp1
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01175.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01993.hp2
HG02027.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp2
HG03710.hp1
HG04228.hp1
NA18939.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18979.hp1
NA18995.hp1
NA19004.hp2
NA19081.hp1
NA19089.hp1
NA20752.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.586-4292_586-4291d
others(4): Show 
c.586-4292_586-4291dupAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677274
chr2:232677274 TACAC
TACAC
 T
T
 233 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
others(230): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0228
a0001c0001t0004g0031
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0004t0001g0156
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0002g0262
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0337
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0028
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 241 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(238): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.586-4294_586-4291d
others(6): Show 
c.586-4294_586-4291delACAC
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232677274
chr2:232677627 T
T
 C
C
 2 a0001c0001t0010g0298
a0001c0004t0002g0262
a0001c0001t0010g0298
a0001c0004t0002g0262
 2 HG03098.hp2
HG03209.hp2
HG03098.hp2
HG03209.hp2
 intron_variant MODIFIER c.586-3958T>C
c.586-3958T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677627
chr2:232677708 G
G
 C
C
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.586-3877G>C
c.586-3877G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677708
chr2:232677771 C
C
 G
G
 30 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(27): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 30 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(27): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-3814C>G
c.586-3814C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677771
chr2:232677778 A
A
 G
G
 1 a0001c0004t0004g0064
a0001c0004t0004g0064
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.586-3807A>G
c.586-3807A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677778
chr2:232677798 A
A
 C
C
 31 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(28): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-3787A>C
c.586-3787A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232677798
chr2:232678151 C
C
 T
T
 2 a0001c0001t0006g0079
a0001c0001t0008g0283
a0001c0001t0006g0079
a0001c0001t0008g0283
 2 HG01243.hp1
HG03471.hp2
HG01243.hp1
HG03471.hp2
 intron_variant MODIFIER c.586-3434C>T
c.586-3434C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678151
chr2:232678152 G
G
 A
A
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-3433G>A
c.586-3433G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678152
chr2:232678271 GA
GA
 G
G
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-3303delA
c.586-3303delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232678271
chr2:232678300 A
A
 G
G
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.586-3285A>G
c.586-3285A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678300
chr2:232678418 G
G
 C
C
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-3167G>C
c.586-3167G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678418
chr2:232678513 G
G
 A
A
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.586-3072G>A
c.586-3072G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678513
chr2:232678545 G
G
 A
A
 1 a0001c0001t0005g0264
a0001c0001t0005g0264
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.586-3040G>A
c.586-3040G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678545
chr2:232678627 A
A
 C
C
 86 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
others(83): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0155
a0002c0002t0001g0175
a0002c0002t0001g0201
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0001g0314
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0003t0001g0005
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0212
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0028
a0007c0010t0001g0346
 87 HG00140.hp1
HG00280.hp2
HG00438.hp1
others(84): Show 
HG00140.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02738.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
NA18522.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp2
NA18947.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18988.hp2
NA18997.hp2
NA18998.hp1
NA19000.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19055.hp2
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19077.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.586-2958A>C
c.586-2958A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678627
chr2:232678733 T
T
 A
A
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-2852T>A
c.586-2852T>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678733
chr2:232678827 C
C
 T
T
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-2758C>T
c.586-2758C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678827
chr2:232678840 G
G
 A
A
 1 a0001c0001t0021g0272
a0001c0001t0021g0272
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.586-2745G>A
c.586-2745G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678840
chr2:232678972 C
C
 T
T
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-2613C>T
c.586-2613C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678972
chr2:232678979 T
T
 C
C
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-2606T>C
c.586-2606T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232678979
chr2:232679179 C
C
 T
T
 7 a0001c0001t0003g0117
a0001c0001t0003g0236
a0001c0001t0003g0247
others(4): Show 
a0001c0001t0003g0117
a0001c0001t0003g0236
a0001c0001t0003g0247
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0256
a0001c0001t0007g0304
 7 HG01070.hp1
HG01175.hp2
HG01258.hp1
others(4): Show 
HG01070.hp1
HG01175.hp2
HG01258.hp1
HG01361.hp1
HG03710.hp1
HG04228.hp1
NA20752.hp1
 intron_variant MODIFIER c.586-2406C>T
c.586-2406C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679179
chr2:232679182 G
G
 A
A
 70 a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
others(67): Show 
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0148
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0255
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0345
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0069
a0002c0003t0001g0076
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0157
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0211
a0002c0003t0001g0260
a0002c0003t0001g0261
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
 77 HG00099.hp1
HG00323.hp2
HG00408.hp1
others(74): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02027.hp2
HG02056.hp2
HG02148.hp1
HG02155.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02896.hp2
HG03139.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18966.hp2
NA18969.hp1
NA18973.hp2
NA18980.hp1
NA18986.hp1
NA18986.hp2
NA18994.hp2
NA18999.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19062.hp1
NA19065.hp2
NA19068.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.586-2403G>A
c.586-2403G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679182
chr2:232679348 C
C
 T
T
 2 a0002c0002t0001g0040
a0002c0002t0001g0213
a0002c0002t0001g0040
a0002c0002t0001g0213
 2 HG02698.hp1
HG03834.hp1
HG02698.hp1
HG03834.hp1
 intron_variant MODIFIER c.586-2237C>T
c.586-2237C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679348
chr2:232679396 CT
CT
 C
C
 33 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(30): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0003g0224
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 33 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(30): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-2179delT
c.586-2179delT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232679396
chr2:232679515 C
C
 G
G
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-2070C>G
c.586-2070C>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679515
chr2:232679570 G
G
 A
A
 1 a0001c0001t0010g0301
a0001c0001t0010g0301
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.586-2015G>A
c.586-2015G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679570
chr2:232679588 C
C
 T
T
 72 a0001c0001t0005g0264
a0002c0002t0001g0001
a0002c0002t0001g0011
others(69): Show 
a0001c0001t0005g0264
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0148
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0255
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0345
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0059
a0002c0003t0001g0069
a0002c0003t0001g0076
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0120
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0157
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0211
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
 79 HG00099.hp1
HG00323.hp2
HG00408.hp1
others(76): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG02027.hp2
HG02056.hp2
HG02148.hp1
HG02155.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp2
HG02896.hp2
HG03139.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18966.hp2
NA18969.hp1
NA18973.hp2
NA18980.hp1
NA18986.hp1
NA18986.hp2
NA18994.hp2
NA18999.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19062.hp1
NA19065.hp2
NA19068.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.586-1997C>T
c.586-1997C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679588
chr2:232679646 C
C
 T
T
 3 a0001c0001t0020g0276
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0001t0020g0276
a0001c0004t0004g0163
a0001c0004t0004g0164
 3 HG03041.hp2
HG03098.hp1
NA18906.hp1
HG03041.hp2
HG03098.hp1
NA18906.hp1
 intron_variant MODIFIER c.586-1939C>T
c.586-1939C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679646
chr2:232679712 G
G
 A
A
 5 a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
others(2): Show 
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0358
a0002c0002t0015g0313
a0002c0003t0001g0059
 5 HG02027.hp2
NA18994.hp2
NA19010.hp2
others(2): Show 
HG02027.hp2
NA18994.hp2
NA19010.hp2
NA19062.hp1
NA19083.hp1
 intron_variant MODIFIER c.586-1873G>A
c.586-1873G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679712
chr2:232679717 T
T
 TA
TA
 83 a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
others(80): Show 
a0001c0001t0001g0012
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0155
a0002c0002t0001g0201
a0002c0002t0001g0215
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0257
a0002c0002t0001g0314
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0003t0001g0005
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0212
a0002c0003t0014g0116
a0002c0003t0018g0005
a0003c0005t0001g0017
a0003c0005t0001g0028
a0007c0010t0001g0346
 84 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(81): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00642.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02738.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
NA18522.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp2
NA18947.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18988.hp2
NA18989.hp2
NA18997.hp2
NA18998.hp1
NA19000.hp1
NA19003.hp2
NA19004.hp1
NA19010.hp1
NA19011.hp1
NA19055.hp2
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19077.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.586-1851dupA
c.586-1851dupA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232679717
chr2:232679717 TA
TA
 T
T
 7 a0001c0001t0005g0264
a0001c0001t0012g0351
a0001c0004t0002g0131
others(4): Show 
a0001c0001t0005g0264
a0001c0001t0012g0351
a0001c0004t0002g0131
a0001c0004t0004g0230
a0002c0003t0001g0211
a0003c0005t0001g0021
a0006c0012t0001g0100
 7 HG03490.hp1
NA18747.hp2
NA18941.hp1
others(4): Show 
HG03490.hp1
NA18747.hp2
NA18941.hp1
NA18973.hp1
NA19056.hp1
NA19068.hp2
NA20129.hp2
 intron_variant MODIFIER c.586-1851delA
c.586-1851delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232679717
chr2:232679752 G
G
 A
A
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-1833G>A
c.586-1833G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679752
chr2:232679754 T
T
 C
C
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-1831T>C
c.586-1831T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679754
chr2:232679777 G
G
 A
A
 3 a0002c0003t0001g0193
a0002c0003t0001g0209
a0002c0003t0001g0212
a0002c0003t0001g0193
a0002c0003t0001g0209
a0002c0003t0001g0212
 3 HG02135.hp1
NA18962.hp1
NA18970.hp2
HG02135.hp1
NA18962.hp1
NA18970.hp2
 intron_variant MODIFIER c.586-1808G>A
c.586-1808G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679777
chr2:232679801 A
A
 G
G
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.586-1784A>G
c.586-1784A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232679801
chr2:232680132 A
A
 C
C
 1 a0001c0001t0003g0234
a0001c0001t0003g0234
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.586-1453A>C
c.586-1453A>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680132
chr2:232680232 G
G
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0265
a0001c0001t0001g0019
a0001c0001t0001g0265
 2 HG03540.hp1
NA20300.hp2
HG03540.hp1
NA20300.hp2
 intron_variant MODIFIER c.586-1353G>A
c.586-1353G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680232
chr2:232680252 A
A
 G
G
 125 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(122): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0012g0351
a0001c0001t0013g0039
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0002c0002t0001g0233
a0002c0003t0001g0126
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
 126 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(123): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00735.hp2
HG01106.hp1
HG01109.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18957.hp2
NA18960.hp2
NA18967.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18979.hp2
NA18981.hp1
NA18983.hp1
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18995.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19009.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19055.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19065.hp1
NA19074.hp2
NA19077.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.586-1333A>G
c.586-1333A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680252
chr2:232680273 TA
TA
 T
T
 26 a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
others(23): Show 
a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0002c0003t0001g0193
a0003c0005t0006g0058
a0003c0005t0006g0259
 27 HG01109.hp2
HG01243.hp1
HG01891.hp1
others(24): Show 
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
NA18962.hp1
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.586-1300delA
c.586-1300delA
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232680273
chr2:232680299 G
G
 A
A
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-1286G>A
c.586-1286G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680299
chr2:232680376 C
C
 CTGATA
CTGATA
 304 a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
others(301): Show 
a0001c0001t0001g0012
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0077
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0308
a0001c0001t0001g0315
a0001c0001t0001g0356
a0001c0001t0002g0013
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0178
a0001c0001t0002g0179
a0001c0001t0002g0181
a0001c0001t0002g0200
a0001c0001t0002g0204
a0001c0001t0002g0219
a0001c0001t0002g0222
a0001c0001t0002g0246
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0258
a0001c0001t0002g0321
a0001c0001t0002g0322
a0001c0001t0002g0323
a0001c0001t0002g0324
a0001c0001t0002g0325
a0001c0001t0002g0326
a0001c0001t0002g0332
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0341
a0001c0001t0002g0343
a0001c0001t0002g0347
a0001c0001t0002g0349
a0001c0001t0002g0355
a0001c0001t0002g0367
a0001c0001t0002g0368
a0001c0001t0003g0228
a0001c0001t0004g0031
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0005g0010
a0001c0001t0005g0264
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0001t0005g0300
a0001c0001t0005g0303
a0001c0001t0005g0364
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0010g0298
a0001c0001t0010g0301
a0001c0001t0010g0306
a0001c0001t0011g0038
a0001c0001t0012g0351
a0001c0001t0016g0216
a0001c0001t0020g0276
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0001g0057
a0001c0004t0001g0156
a0001c0004t0001g0167
a0001c0004t0001g0182
a0001c0004t0001g0221
a0001c0004t0002g0016
a0001c0004t0002g0062
a0001c0004t0002g0078
a0001c0004t0002g0095
a0001c0004t0002g0113
a0001c0004t0002g0114
a0001c0004t0002g0127
a0001c0004t0002g0128
a0001c0004t0002g0130
a0001c0004t0002g0131
a0001c0004t0002g0134
a0001c0004t0002g0136
a0001c0004t0002g0138
a0001c0004t0002g0139
a0001c0004t0002g0140
a0001c0004t0002g0141
a0001c0004t0002g0149
a0001c0004t0002g0161
a0001c0004t0002g0225
a0001c0004t0002g0262
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0001c0006t0001g0034
a0001c0006t0001g0267
a0001c0006t0005g0288
a0001c0006t0005g0365
a0001c0006t0005g0366
a0001c0009t0005g0299
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0108
a0002c0003t0001g0109
a0002c0003t0001g0110
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0126
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0146
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0003c0005t0001g0021
a0003c0005t0001g0028
a0003c0005t0001g0029
a0003c0005t0002g0015
a0003c0005t0002g0018
a0003c0005t0002g0060
a0003c0005t0006g0058
a0003c0005t0006g0259
a0003c0005t0011g0023
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
a0008c0013t0001g0027
 313 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(310): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.586-1207_586-1203d
others(7): Show 
c.586-1207_586-1203dupGATAT
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232680376
chr2:232680462 T
T
 C
C
 32 a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
others(29): Show 
a0001c0001t0004g0158
a0001c0001t0004g0176
a0001c0001t0004g0177
a0001c0001t0004g0319
a0001c0001t0004g0320
a0001c0001t0004g0329
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0004g0352
a0001c0001t0004g0353
a0001c0001t0004g0354
a0001c0001t0004g0359
a0001c0001t0012g0351
a0001c0001t0020g0276
a0001c0004t0004g0064
a0001c0004t0004g0065
a0001c0004t0004g0081
a0001c0004t0004g0103
a0001c0004t0004g0104
a0001c0004t0004g0105
a0001c0004t0004g0135
a0001c0004t0004g0143
a0001c0004t0004g0144
a0001c0004t0004g0152
a0001c0004t0004g0163
a0001c0004t0004g0164
a0001c0004t0004g0168
a0001c0004t0004g0169
a0001c0004t0004g0171
a0001c0004t0004g0207
a0001c0004t0004g0208
a0001c0004t0004g0230
 32 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(29): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG02056.hp1
HG02129.hp1
HG02523.hp1
HG02523.hp2
HG02698.hp2
HG03041.hp2
HG03098.hp1
HG03654.hp2
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp1
NA18951.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp2
NA18981.hp1
NA18989.hp1
NA18998.hp2
NA19012.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19077.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-1123T>C
c.586-1123T>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680462
chr2:232680496 G
G
 A
A
 1 a0001c0001t0013g0039
a0001c0001t0013g0039
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.586-1089G>A
c.586-1089G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680496
chr2:232680506 G
G
 A
A
 1 a0001c0001t0003g0256
a0001c0001t0003g0256
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.586-1079G>A
c.586-1079G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680506
chr2:232680751 C
C
 T
T
 6 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0315
 6 HG00544.hp2
HG02083.hp2
HG02293.hp2
others(3): Show 
HG00544.hp2
HG02083.hp2
HG02293.hp2
NA18951.hp2
NA18997.hp1
NA18999.hp1
 intron_variant MODIFIER c.586-834C>T
c.586-834C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680751
chr2:232680762 G
G
 C
C
 2 a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0318
a0002c0002t0001g0327
 2 NA19056.hp2
NA19085.hp1
NA19056.hp2
NA19085.hp1
 intron_variant MODIFIER c.586-823G>C
c.586-823G>C
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680762
chr2:232680809 C
C
 T
T
 25 a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
others(22): Show 
a0001c0001t0001g0308
a0001c0001t0006g0025
a0001c0001t0006g0026
a0001c0001t0006g0030
a0001c0001t0006g0035
a0001c0001t0006g0079
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0006g0269
a0001c0001t0006g0277
a0001c0001t0006g0278
a0001c0001t0006g0361
a0001c0001t0008g0283
a0001c0001t0008g0285
a0001c0001t0008g0287
a0001c0001t0008g0289
a0001c0001t0008g0294
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0009
a0001c0004t0006g0041
a0001c0004t0006g0042
a0001c0004t0006g0191
a0003c0005t0006g0058
a0003c0005t0006g0259
 26 HG01109.hp2
HG01243.hp1
HG01891.hp1
others(23): Show 
HG01109.hp2
HG01243.hp1
HG01891.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.586-776C>T
c.586-776C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680809
chr2:232680834 C
C
 A
A
 138 a0001c0001t0001g0012
a0002c0002t0001g0001
a0002c0002t0001g0011
others(135): Show 
a0001c0001t0001g0012
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0040
a0002c0002t0001g0044
a0002c0002t0001g0045
a0002c0002t0001g0046
a0002c0002t0001g0047
a0002c0002t0001g0053
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0102
a0002c0002t0001g0106
a0002c0002t0001g0132
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0155
a0002c0002t0001g0173
a0002c0002t0001g0174
a0002c0002t0001g0175
a0002c0002t0001g0180
a0002c0002t0001g0192
a0002c0002t0001g0195
a0002c0002t0001g0197
a0002c0002t0001g0198
a0002c0002t0001g0199
a0002c0002t0001g0201
a0002c0002t0001g0202
a0002c0002t0001g0203
a0002c0002t0001g0205
a0002c0002t0001g0206
a0002c0002t0001g0213
a0002c0002t0001g0214
a0002c0002t0001g0215
a0002c0002t0001g0226
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0232
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0257
a0002c0002t0001g0279
a0002c0002t0001g0280
a0002c0002t0001g0310
a0002c0002t0001g0312
a0002c0002t0001g0314
a0002c0002t0001g0316
a0002c0002t0001g0317
a0002c0002t0001g0318
a0002c0002t0001g0327
a0002c0002t0001g0328
a0002c0002t0001g0330
a0002c0002t0001g0331
a0002c0002t0001g0340
a0002c0002t0001g0342
a0002c0002t0001g0345
a0002c0002t0001g0348
a0002c0002t0001g0350
a0002c0002t0001g0358
a0002c0002t0001g0363
a0002c0002t0005g0284
a0002c0002t0005g0292
a0002c0002t0005g0302
a0002c0002t0005g0362
a0002c0002t0015g0313
a0002c0002t0017g0311
a0002c0002t0022g0263
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0005
a0002c0003t0001g0059
a0002c0003t0001g0066
a0002c0003t0001g0067
a0002c0003t0001g0068
a0002c0003t0001g0069
a0002c0003t0001g0070
a0002c0003t0001g0072
a0002c0003t0001g0073
a0002c0003t0001g0074
a0002c0003t0001g0075
a0002c0003t0001g0076
a0002c0003t0001g0080
a0002c0003t0001g0084
a0002c0003t0001g0085
a0002c0003t0001g0086
a0002c0003t0001g0087
a0002c0003t0001g0088
a0002c0003t0001g0089
a0002c0003t0001g0090
a0002c0003t0001g0091
a0002c0003t0001g0092
a0002c0003t0001g0093
a0002c0003t0001g0096
a0002c0003t0001g0099
a0002c0003t0001g0101
a0002c0003t0001g0107
a0002c0003t0001g0109
a0002c0003t0001g0112
a0002c0003t0001g0115
a0002c0003t0001g0120
a0002c0003t0001g0121
a0002c0003t0001g0122
a0002c0003t0001g0123
a0002c0003t0001g0124
a0002c0003t0001g0125
a0002c0003t0001g0133
a0002c0003t0001g0137
a0002c0003t0001g0145
a0002c0003t0001g0150
a0002c0003t0001g0151
a0002c0003t0001g0154
a0002c0003t0001g0157
a0002c0003t0001g0159
a0002c0003t0001g0160
a0002c0003t0001g0162
a0002c0003t0001g0165
a0002c0003t0001g0170
a0002c0003t0001g0189
a0002c0003t0001g0193
a0002c0003t0001g0196
a0002c0003t0001g0209
a0002c0003t0001g0210
a0002c0003t0001g0211
a0002c0003t0001g0212
a0002c0003t0001g0220
a0002c0003t0001g0260
a0002c0003t0001g0261
a0002c0003t0014g0116
a0002c0003t0018g0005
a0002c0003t0019g0129
a0003c0005t0001g0017
a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0218
a0005c0008t0001g0020
a0005c0008t0001g0022
a0006c0012t0001g0100
a0007c0010t0001g0346
 145 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(142): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp2
HG03139.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp2
NA18994.hp2
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19056.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.586-751C>A
c.586-751C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680834
chr2:232680849 C
C
 A
A
 1 a0001c0004t0004g0064
a0001c0004t0004g0064
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.586-736C>A
c.586-736C>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680849
chr2:232680904 C
C
 T
T
 2 a0002c0003t0001g0165
a0002c0003t0001g0211
a0002c0003t0001g0165
a0002c0003t0001g0211
 2 HG00408.hp1
NA19068.hp2
HG00408.hp1
NA19068.hp2
 intron_variant MODIFIER c.586-681C>T
c.586-681C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680904
chr2:232680907 C
C
 T
T
 3 a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
a0001c0001t0001g0024
a0001c0001t0001g0172
a0001c0001t0001g0356
 3 HG03041.hp1
HG03579.hp2
HG06807.hp2
HG03041.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.586-678C>T
c.586-678C>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680907
chr2:232680927 G
G
 A
A
 2 a0004c0007t0001g0006
a0004c0007t0001g0217
a0004c0007t0001g0006
a0004c0007t0001g0217
 3 HG00733.hp2
HG00735.hp1
HG01074.hp2
HG00733.hp2
HG00735.hp1
HG01074.hp2
 intron_variant MODIFIER c.586-658G>A
c.586-658G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232680927
chr2:232681014 GGCAT
GGCAT
 G
G
 14 a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
others(11): Show 
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0194
a0001c0001t0005g0010
a0001c0001t0005g0281
a0001c0001t0005g0282
a0001c0001t0005g0286
a0001c0001t0005g0293
a0001c0001t0005g0297
a0001c0004t0001g0156
a0001c0004t0001g0182
a0001c0004t0001g0221
a0003c0005t0001g0028
 15 HG01346.hp1
HG02055.hp1
HG02451.hp2
others(12): Show 
HG01346.hp1
HG02055.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02683.hp2
HG02965.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
HG03942.hp1
NA18522.hp2
NA18981.hp2
NA19240.hp1
 intron_variant MODIFIER c.586-569_586-566del
others(4): Show 
c.586-569_586-566delCATG
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 INFO_REALIGN_3_PRIME chr2 232681014
chr2:232681066 G
G
 A
A
 1 a0001c0004t0004g0064
a0001c0004t0004g0064
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.586-519G>A
c.586-519G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232681066
chr2:232681180 A
A
 T
T
 23 a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0266
others(20): Show 
a0001c0001t0003g0032
a0001c0001t0003g0037
a0001c0001t0003g0266
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0275
a0001c0001t0003g0307
a0001c0001t0003g0357
a0001c0001t0006g0035
a0001c0001t0006g0097
a0001c0001t0006g0098
a0001c0001t0007g0002
a0001c0001t0007g0291
a0001c0001t0007g0295
a0001c0001t0007g0296
a0001c0001t0007g0305
a0001c0001t0008g0294
a0001c0001t0009g0271
a0001c0001t0021g0272
a0001c0001t0023g0309
a0001c0004t0006g0041
a0001c0004t0006g0042
a0003c0005t0006g0058
 25 HG01109.hp2
HG02145.hp1
HG02145.hp2
others(22): Show 
HG01109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.586-405A>T
c.586-405A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232681180
chr2:232681208 A
A
 T
T
 1 a0002c0003t0001g0089
a0002c0003t0001g0089
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.586-377A>T
c.586-377A>T
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232681208
chr2:232681284 A
A
 G
G
 1 a0001c0001t0004g0353
a0001c0001t0004g0353
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.586-301A>G
c.586-301A>G
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232681284
chr2:232681434 G
G
 A
A
 1 a0002c0003t0001g0086
a0002c0003t0001g0086
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.586-151G>A
c.586-151G>A
EFHD1 ENSG00000115468.13 transcript ENST00000264059.8 protein_coding 3/3 chr2 232681434

  • 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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