JoGo LogoJoint Open Genome and Omics Platform (JoGo)
  • Home
    • General
    • Gene
    • Region
    • Variant
    • Haplotype
    • Haplotype by sample
    • ClinVar
    • GWASCatalog
    • GTEx
    • HaplotypeQTL
    • Haplotype
    • Position
    • Clinvar
    • Gene
    • Variant
    • Haplotype
    • Sample
    • FAQ
    • Contact
    • Fundings
    • Developer
    • ChIP-Atlas PeakBrowser
    • ToGoVAR
    • MGeND
    • Nagasaki Lab

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EFHC1_chr6_52415342_52502198  EFHC1_chr6_52415342_52502198 (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 114327
ensemblid ENSG00000096093.16
hgncid 16406
symbol EFHC1
name EF-hand domain containing 1
refseq_nuc NM_018100.4
refseq_prot NP_060570.2
ensembl_nuc ENST00000371068.11
ensembl_prot ENSP00000360107.4
mane_status MANE Select
chr chr6
start 52420342
end 52497198
strand +
ver v1.2
region chr6:52420342-52497198
region5000 chr6:52415342-52502198
regionname0 EFHC1_chr6_52420342_52497198
regionname5000 EFHC1_chr6_52415342_52502198

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 640 293 50 51 143 10 37 114 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002 0/0 640 26 21 4 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0003 0/0 640 25 3 6 12 2 2 10 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004 0/0 640 22 1 2 14 1 4 10 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0005 0/0 640 9 2 4 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0006 0/0 640 6 6 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0007 0/0 640 5 5 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0008 0/0 640 4 3 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0009 0/0 640 3 3 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0010 0/0 640 1 0 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0011 0/0 640 1 1 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0012 0/0 640 1 1 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 1923 288 47 51 142 10 36 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0002 0/0 1923 26 21 4 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0003 0/0 1923 25 3 6 12 2 2 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0004 0/0 1923 22 1 2 14 1 4 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0005 0/0 1923 9 2 4 0 3 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0006 0/0 1923 6 6 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0007 0/0 1923 5 5 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0008 0/0 1923 4 3 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0009 0/0 1923 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0010 0/0 1923 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0011 0/0 1923 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0012 0/0 1923 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0013 0/0 1923 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0014 0/0 1923 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
c0015 0/0 1923 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 4932 87 13 20 40 4 10 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0002 0/0 4934 71 0 9 51 1 10 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0003 1/0 4927 22 2 6 9 2 2 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0004 0/0 4934 16 13 3 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0005 0/0 4948 15 1 1 13 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0006 0/0 4946 14 1 0 12 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0007 0/1 4947 13 0 2 7 3 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0008 0/0 4951 6 0 0 3 2 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0009 0/0 4927 6 4 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0010 0/0 4949 5 0 3 0 1 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0011 0/0 4953 5 2 0 1 0 2 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0012 0/0 4951 5 0 0 0 2 3 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0013 0/0 4949 5 0 3 1 1 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0014 0/0 4927 4 3 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0015 0/0 4955 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0016 0/0 4947 3 0 2 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0017 0/0 4953 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0018 0/0 4927 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0019 0/0 4927 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0020 0/0 4927 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0021 0/0 4955 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0022 0/0 4932 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0023 0/0 4961 2 0 1 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0024 0/0 4969 2 1 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0025 0/0 4957 2 0 1 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0026 0/0 4953 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0027 0/0 4961 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0028 0/0 4963 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0029 0/0 4949 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0030 0/0 4959 2 1 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0031 0/0 4947 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0032 0/0 4955 2 0 0 1 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0033 0/0 4955 2 1 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0034 0/0 4953 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0035 0/0 4951 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0036 0/0 4941 2 1 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0037 0/0 4949 2 1 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0038 0/0 4933 2 1 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0039 0/0 4944 2 0 1 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0040 0/0 4929 2 0 0 0 0 2 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0041 0/0 4917 2 1 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0042 0/0 4936 2 0 1 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0043 0/0 4959 2 1 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0044 0/0 4950 2 0 0 1 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0045 0/0 4944 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0046 0/0 4934 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0047 0/0 4934 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0048 0/0 4963 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0049 0/0 4959 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0050 0/0 4961 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0051 0/0 4957 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0052 0/0 4981 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0053 0/0 4967 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0054 0/0 4965 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0055 0/0 4965 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0056 0/0 4969 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0057 0/0 4963 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0058 0/0 4963 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0059 0/0 4951 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0060 0/0 4961 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0061 0/0 4951 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0062 0/0 4957 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0063 0/0 4957 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0064 0/0 4957 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0065 0/0 4950 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0066 0/0 4955 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0067 0/0 4955 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0068 0/0 4953 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0069 0/0 4955 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0070 0/0 4943 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0071 0/0 4951 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0072 0/0 4954 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0073 0/0 4951 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0074 0/0 4949 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0075 0/0 4937 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0076 0/0 4947 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0077 0/0 4935 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0078 0/0 4941 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0079 0/0 4941 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0080 0/0 4939 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0081 0/0 4923 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0082 0/0 4934 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0083 0/0 4934 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0084 0/0 4921 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0085 0/0 4930 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0086 0/0 4929 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0087 0/0 4918 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0088 0/0 4929 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0089 0/0 4934 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0090 0/0 4961 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0091 0/0 4959 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0092 0/0 4953 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0093 0/0 4953 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0094 0/0 4952 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0095 0/0 4949 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0096 0/0 4948 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0097 0/0 4946 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0098 0/0 4934 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
t0099 0/0 4932 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 13 1 9 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0002 0/0 11 0 2 9 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0003 0/0 7 0 0 7 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0004 0/0 6 1 0 4 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0005 0/0 5 4 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0006 0/0 5 0 0 4 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0007 0/0 4 0 0 4 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0008 0/0 4 2 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0009 0/0 4 4 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0010 0/0 4 0 0 4 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0011 0/0 4 0 0 3 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0012 0/0 3 2 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0013 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0014 0/0 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0015 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0016 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0017 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0018 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0019 0/0 2 0 0 0 0 2 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0020 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0021 0/0 2 0 0 0 1 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0022 0/0 2 0 1 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0023 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0024 0/0 2 0 0 0 2 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0025 0/0 2 0 0 0 0 2 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0026 0/0 2 0 0 0 1 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0027 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0028 0/0 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0029 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0030 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0031 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0032 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0033 0/0 2 0 0 0 0 2 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0034 0/0 2 0 0 1 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0035 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0036 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0037 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0038 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0039 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0040 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0041 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0042 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0043 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0044 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0045 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0046 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0047 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0048 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0049 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0050 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0051 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0052 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0053 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0054 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0055 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0056 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0057 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0058 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0059 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0060 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0061 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0062 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0063 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0064 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0065 0/1 1 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0066 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0067 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0068 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0069 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0070 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0071 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0072 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0073 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0074 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0075 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0076 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0077 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0078 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0079 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0080 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0081 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0082 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0083 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0084 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0085 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0086 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0087 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0088 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0089 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0090 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0091 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0092 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0093 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0094 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0095 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0096 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0097 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0098 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0099 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0100 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0101 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0102 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0103 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0104 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0105 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0106 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0107 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0108 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0109 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0110 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0111 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0112 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0113 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0114 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0115 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0116 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0117 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0118 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0119 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0120 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0121 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0122 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0123 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0124 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0125 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0126 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0127 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0128 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0129 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0130 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0131 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0132 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0133 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0134 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0135 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0136 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0137 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0138 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0139 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0140 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0141 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0142 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0143 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0144 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0145 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0146 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0147 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0148 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0149 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0150 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0151 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0152 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0153 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0154 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0155 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0156 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0157 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0158 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0159 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0160 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0161 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0162 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0163 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0164 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0165 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0166 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0167 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0168 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0169 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0170 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0171 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0172 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0173 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0174 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0175 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0176 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0177 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0178 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0179 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0180 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0181 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0182 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0183 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0184 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0185 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0186 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0187 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0188 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0189 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0190 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0191 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0192 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0193 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0194 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0195 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0196 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0197 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0198 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0199 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0200 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0201 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0202 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0203 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0204 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0205 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0206 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0207 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0208 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0209 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0210 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0211 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0212 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0213 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0214 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0215 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0216 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0217 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0218 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0219 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0220 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0221 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0222 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0223 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0224 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0225 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0226 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0227 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0228 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0229 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0230 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0231 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0232 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0233 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0234 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0235 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0236 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0237 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0238 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0239 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0240 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0241 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0242 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0243 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0244 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0245 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0246 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0247 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0248 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0249 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0250 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0251 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0252 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0253 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0254 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0255 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0256 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0257 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0258 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0259 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0260 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0261 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0262 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0263 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0264 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0265 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0266 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0267 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0268 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0269 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0270 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0271 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0272 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0273 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0274 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0275 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0276 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0277 1/0 1 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0278 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0279 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0280 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0281 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0282 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0283 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0284 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0285 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0286 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0287 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0288 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0289 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0290 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0291 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0292 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0293 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0294 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0295 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0296 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0297 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0298 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0299 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0300 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0301 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0302 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0303 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0304 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0305 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0306 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
g0307 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 1923 288 47 51 142 10 36 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0010 0/0 1923 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0011 0/0 1923 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0014 0/0 1923 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002 0/0 1923 26 21 4 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0003c0003 0/0 1923 25 3 6 12 2 2 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004 0/0 1923 22 1 2 14 1 4 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0005c0005 0/0 1923 9 2 4 0 3 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0006c0006 0/0 1923 6 6 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0007c0007 0/0 1923 5 5 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0008c0008 0/0 1923 4 3 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0009c0009 0/0 1923 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0010c0012 0/0 1923 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0011c0013 0/0 1923 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0012c0015 0/0 1923 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 6854 72 5 16 40 1 10 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0002 0/0 6856 70 0 9 50 1 10 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0003 1/0 6849 1 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0004 0/0 6856 15 12 3 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0005 0/0 6870 15 1 1 13 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0006 0/0 6868 14 1 0 12 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0007 0/1 6869 13 0 2 7 3 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0008 0/0 6873 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0009 0/0 6849 6 4 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0010 0/0 6871 3 0 1 0 1 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0011 0/0 6875 4 2 0 1 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0012 0/0 6873 5 0 0 0 2 3 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0013 0/0 6871 5 0 3 1 1 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0016 0/0 6869 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0019 0/0 6849 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0020 0/0 6849 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0022 0/0 6854 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0023 0/0 6883 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0025 0/0 6879 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0027 0/0 6883 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0028 0/0 6885 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0029 0/0 6871 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0030 0/0 6881 2 1 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0031 0/0 6869 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0032 0/0 6877 2 0 0 1 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0035 0/0 6873 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0036 0/0 6863 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0037 0/0 6871 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0038 0/0 6855 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0039 0/0 6866 2 0 1 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0040 0/0 6851 2 0 0 0 0 2 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0041 0/0 6839 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0042 0/0 6858 2 0 1 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0044 0/0 6872 2 0 0 1 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0045 0/0 6866 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0047 0/0 6856 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0049 0/0 6881 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0054 0/0 6887 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0057 0/0 6885 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0059 0/0 6873 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0060 0/0 6883 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0062 0/0 6879 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0065 0/0 6872 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0066 0/0 6877 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0069 0/0 6877 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0070 0/0 6865 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0074 0/0 6871 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0076 0/0 6869 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0082 0/0 6856 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0083 0/0 6856 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0085 0/0 6852 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0087 0/0 6840 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0088 0/0 6851 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0089 0/0 6856 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0092 0/0 6875 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0094 0/0 6874 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0095 0/0 6871 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0096 0/0 6870 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0097 0/0 6868 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0098 0/0 6856 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0001t0099 0/0 6854 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0010t0001 0/0 6854 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0010t0050 0/0 6883 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0010t0052 0/0 6903 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0011t0011 0/0 6875 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0001c0014t0002 0/0 6856 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0021 0/0 6877 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0024 0/0 6891 2 1 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0027 0/0 6883 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0033 0/0 6877 2 1 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0034 0/0 6875 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0037 0/0 6871 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0043 0/0 6881 2 1 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0048 0/0 6885 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0053 0/0 6889 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0055 0/0 6887 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0058 0/0 6885 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0063 0/0 6879 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0064 0/0 6879 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0067 0/0 6877 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0068 0/0 6875 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0071 0/0 6873 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0078 0/0 6863 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0079 0/0 6863 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0080 0/0 6861 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0086 0/0 6851 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0002c0002t0090 0/0 6883 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0003c0003t0003 0/0 6849 21 2 6 9 2 2 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0003c0003t0018 0/0 6849 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0003c0003t0022 0/0 6854 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0008 0/0 6873 5 0 0 3 1 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0010 0/0 6871 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0015 0/0 6877 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0016 0/0 6869 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0023 0/0 6883 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0025 0/0 6879 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0026 0/0 6875 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0036 0/0 6863 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0038 0/0 6855 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0041 0/0 6839 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0061 0/0 6873 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0075 0/0 6859 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0077 0/0 6857 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0081 0/0 6845 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0004c0004t0084 0/0 6843 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0005c0005t0001 0/0 6854 9 2 4 0 3 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0006c0006t0017 0/0 6875 3 3 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0006c0006t0056 0/0 6891 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0006c0006t0072 0/0 6876 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0006c0006t0073 0/0 6873 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0007c0007t0001 0/0 6854 4 4 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0007c0007t0051 0/0 6879 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0008c0008t0014 0/0 6849 4 3 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0009c0009t0046 0/0 6856 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0009c0009t0091 0/0 6881 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0009c0009t0093 0/0 6875 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0010c0012t0015 0/0 6877 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0011c0013t0004 0/0 6856 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198
a0012c0015t0001 0/0 6854 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 copy fasta chr6 52415342 52502198

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 13 1 9 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0010 0/0 4 0 0 4 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0011 0/0 4 0 0 3 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0027 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0028 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0075 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0077 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0078 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0107 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0115 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0116 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0117 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0118 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0150 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0151 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0152 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0154 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0156 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0157 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0158 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0164 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0165 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0168 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0169 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0171 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0172 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0175 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0176 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0178 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0179 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0180 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0181 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0182 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0185 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0186 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0188 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0189 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0190 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0191 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0193 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0199 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0200 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0201 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0002 0/0 10 0 2 8 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0015 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0016 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0017 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0018 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0029 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0030 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0031 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0032 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0033 0/0 2 0 0 0 0 2 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0222 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0225 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0226 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0227 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0228 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0229 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0230 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0231 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0239 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0242 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0243 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0244 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0245 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0246 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0248 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0249 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0250 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0251 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0252 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0253 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0254 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0255 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0256 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0257 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0258 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0259 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0260 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0261 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0262 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0263 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0264 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0265 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0266 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0268 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0269 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0270 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0271 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0272 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0002g0273 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0003g0277 1/0 1 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0005 0/0 5 4 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0223 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0224 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0232 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0233 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0235 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0236 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0237 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0238 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0275 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0004g0276 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0003 0/0 5 0 0 5 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0006 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0035 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0283 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0292 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0293 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0296 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0302 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0303 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0005g0304 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0003 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0006 0/0 2 0 0 1 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0034 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0035 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0036 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0067 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0284 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0285 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0287 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0289 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0290 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0006g0294 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0007 0/0 3 0 0 3 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0021 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0040 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0041 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0047 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0051 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0053 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0057 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0061 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0064 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0007g0065 0/1 1 0 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0008g0026 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0009g0008 0/0 3 1 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0009g0089 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0009g0090 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0009g0093 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0010g0026 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0010g0112 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0010g0129 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0011g0007 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0011g0050 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0011g0062 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0011g0063 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0012g0019 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0012g0021 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0012g0046 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0012g0059 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0012g0060 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0013g0038 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0013g0043 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0013g0045 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0013g0052 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0013g0054 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0016g0138 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0016g0139 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0019g0008 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0019g0091 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0019g0106 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0020g0086 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0020g0087 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0020g0094 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0022g0068 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0023g0122 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0025g0110 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0027g0092 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0028g0020 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0029g0108 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0029g0120 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0030g0039 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0030g0048 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0031g0111 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0031g0134 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0032g0297 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0032g0300 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0035g0037 0/0 2 0 0 2 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0036g0205 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0037g0088 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0038g0221 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0039g0187 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0039g0198 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0040g0130 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0040g0132 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0041g0220 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0042g0002 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0042g0247 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0044g0034 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0044g0291 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0045g0006 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0045g0286 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0047g0267 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0049g0282 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0054g0301 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0057g0299 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0059g0131 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0060g0055 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0062g0298 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0065g0177 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0066g0049 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0069g0058 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0070g0135 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0074g0042 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0076g0044 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0082g0234 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0083g0274 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0085g0069 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0087g0074 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0088g0056 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0089g0240 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0092g0279 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0094g0295 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0095g0197 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0096g0003 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0097g0288 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0098g0017 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0001t0099g0183 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0010t0001g0206 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0010t0050g0204 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0010t0052g0207 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0011t0011g0019 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0001c0014t0002g0241 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0021g0305 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0021g0306 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0024g0009 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0024g0142 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0027g0009 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0033g0009 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0033g0146 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0034g0208 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0034g0216 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0037g0149 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0043g0144 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0043g0145 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0048g0307 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0053g0209 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0055g0214 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0058g0147 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0063g0141 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0064g0213 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0067g0215 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0068g0009 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0071g0148 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0078g0211 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0079g0212 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0080g0210 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0086g0071 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0002c0002t0090g0114 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0004 0/0 5 1 0 3 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0023 0/0 2 0 2 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0024 0/0 2 0 0 0 2 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0072 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0073 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0084 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0085 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0097 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0099 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0101 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0102 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0103 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0104 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0105 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0003g0218 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0018g0004 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0018g0098 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0018g0100 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0003c0003t0022g0219 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0008g0066 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0008g0070 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0008g0124 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0008g0125 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0008g0136 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0010g0113 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0010g0126 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0015g0109 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0015g0127 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0016g0192 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0023g0013 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0025g0025 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0026g0013 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0026g0140 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0036g0128 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0038g0217 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0041g0119 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0061g0025 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0075g0121 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0077g0123 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0081g0133 0/0 1 0 0 0 0 1 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0004c0004t0084g0137 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0022 0/0 2 0 1 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0076 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0079 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0080 0/0 1 0 0 0 1 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0081 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0082 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0083 0/0 1 0 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0005c0005t0001g0096 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0006c0006t0017g0014 0/0 2 2 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0006c0006t0017g0195 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0006c0006t0056g0196 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0006c0006t0072g0194 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0006c0006t0073g0014 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0007c0007t0001g0159 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0007c0007t0001g0160 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0007c0007t0001g0161 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0007c0007t0001g0163 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0007c0007t0051g0162 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0008c0008t0014g0012 0/0 3 2 1 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0008c0008t0014g0095 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0009c0009t0046g0281 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0009c0009t0091g0280 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0009c0009t0093g0278 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0010c0012t0015g0013 0/0 1 0 0 1 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0011c0013t0004g0143 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
a0012c0015t0001g0028 0/0 1 1 0 0 0 0 EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0002 g0228 EUR GBR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00099 hp2 a0001 c0001 t0010 g0112 EUR GBR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00140 hp1 a0005 c0005 t0001 g0022 EUR GBR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00140 hp2 a0001 c0001 t0012 g0060 EUR GBR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00280 hp1 a0004 c0004 t0008 g0136 EUR FIN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00280 hp2 a0001 c0001 t0007 g0053 EUR FIN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00408 hp1 a0004 c0004 t0026 g0140 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00408 hp2 a0001 c0001 t0001 g0190 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00438 hp1 a0001 c0001 t0062 g0298 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00438 hp2 a0001 c0001 t0002 g0002 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00544 hp1 a0010 c0012 t0015 g0013 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00544 hp2 a0001 c0001 t0002 g0239 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00558 hp1 a0001 c0001 t0001 g0010 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00558 hp2 a0001 c0001 t0002 g0016 EAS CHS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00642 hp1 a0003 c0003 t0003 g0102 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00642 hp2 a0005 c0005 t0001 g0083 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00733 hp1 a0003 c0003 t0003 g0105 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00733 hp2 a0004 c0004 t0010 g0126 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00735 hp1 a0002 c0002 t0024 g0142 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00735 hp2 a0001 c0001 t0001 g0001 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00738 hp1 a0001 c0001 t0002 g0253 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00738 hp2 a0001 c0001 t0016 g0139 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00741 hp1 a0001 c0001 t0009 g0008 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG00741 hp2 a0001 c0001 t0001 g0001 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01069 hp1 a0001 c0001 t0029 g0120 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01069 hp2 a0002 c0002 t0080 g0210 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01070 hp1 a0003 c0003 t0003 g0023 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01070 hp2 a0001 c0001 t0002 g0227 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01071 hp1 a0003 c0003 t0003 g0023 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01071 hp2 a0001 c0001 t0029 g0108 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01074 hp1 a0001 c0001 t0001 g0156 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01074 hp2 a0001 c0001 t0004 g0233 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01081 hp1 a0001 c0001 t0042 g0247 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01081 hp2 a0005 c0005 t0001 g0082 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01099 hp1 a0002 c0002 t0033 g0146 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01099 hp2 a0001 c0001 t0001 g0001 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01106 hp1 a0003 c0003 t0003 g0072 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01106 hp2 a0001 c0001 t0039 g0187 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01109 hp1 a0001 c0001 t0001 g0001 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01109 hp2 a0001 c0001 t0013 g0045 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01167 hp1 a0005 c0005 t0001 g0022 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01167 hp2 a0001 c0001 t0009 g0008 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01168 hp1 a0001 c0001 t0025 g0110 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01168 hp2 a0001 c0001 t0001 g0117 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01175 hp1 a0001 c0001 t0087 g0074 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01175 hp2 a0002 c0002 t0043 g0144 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01192 hp1 a0001 c0001 t0005 g0296 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01192 hp2 a0001 c0001 t0001 g0001 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01243 hp1 a0008 c0008 t0014 g0012 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01243 hp2 a0001 c0001 t0013 g0043 AMR PUR EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01255 hp1 a0001 c0001 t0004 g0005 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01255 hp2 a0001 c0001 t0007 g0041 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01257 hp1 a0005 c0005 t0001 g0081 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01257 hp2 a0001 c0001 t0028 g0020 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01258 hp1 a0001 c0001 t0028 g0020 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01258 hp2 a0001 c0001 t0016 g0138 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01346 hp1 a0001 c0001 t0023 g0122 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01346 hp2 a0001 c0001 t0001 g0001 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01358 hp1 a0001 c0001 t0013 g0038 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01358 hp2 a0001 c0001 t0001 g0172 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01433 hp1 a0001 c0001 t0036 g0205 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01433 hp2 a0001 c0001 t0007 g0061 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01496 hp1 a0001 c0001 t0002 g0002 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01496 hp2 a0004 c0004 t0010 g0113 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01515 hp1 a0001 c0001 t0008 g0026 EUR IBS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01515 hp2 a0001 c0001 t0007 g0021 EUR IBS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01516 hp1 a0001 c0001 t0013 g0052 EUR IBS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01516 hp2 a0005 c0005 t0001 g0080 EUR IBS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01517 hp1 a0005 c0005 t0001 g0079 EUR IBS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01517 hp2 a0001 c0001 t0007 g0064 EUR IBS EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01884 hp1 a0007 c0007 t0001 g0159 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01884 hp2 a0001 c0001 t0019 g0008 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01891 hp1 a0001 c0001 t0085 g0069 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01891 hp2 a0001 c0010 t0052 g0207 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01928 hp1 a0001 c0001 t0047 g0267 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01928 hp2 a0001 c0001 t0002 g0030 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01934 hp1 a0001 c0001 t0001 g0178 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01934 hp2 a0003 c0003 t0003 g0099 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01952 hp1 a0001 c0001 t0001 g0165 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01952 hp2 a0001 c0001 t0002 g0032 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01975 hp1 a0001 c0001 t0002 g0002 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01975 hp2 a0001 c0001 t0001 g0115 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01993 hp1 a0001 c0001 t0001 g0001 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01993 hp2 a0001 c0001 t0002 g0246 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02015 hp1 a0001 c0001 t0002 g0225 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02015 hp2 a0001 c0001 t0011 g0007 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02040 hp1 a0001 c0001 t0002 g0243 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02040 hp2 a0001 c0001 t0001 g0167 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02055 hp1 a0001 c0001 t0004 g0005 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02055 hp2 a0005 c0005 t0001 g0076 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02071 hp1 a0001 c0001 t0002 g0244 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02071 hp2 a0003 c0003 t0003 g0104 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02074 hp1 a0001 c0001 t0076 g0044 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02074 hp2 a0004 c0004 t0075 g0121 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02080 hp1 a0001 c0001 t0001 g0184 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02080 hp2 a0001 c0001 t0002 g0250 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02083 hp1 a0001 c0001 t0001 g0010 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02083 hp2 a0001 c0001 t0042 g0002 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02129 hp1 a0001 c0001 t0002 g0029 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02129 hp2 a0001 c0001 t0032 g0300 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02132 hp1 a0001 c0001 t0007 g0057 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02132 hp2 a0003 c0003 t0003 g0101 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02135 hp1 a0004 c0004 t0008 g0066 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02135 hp2 a0001 c0001 t0002 g0031 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02145 hp1 a0005 c0005 t0001 g0096 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02145 hp2 a0001 c0001 t0037 g0088 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02148 hp1 a0001 c0001 t0002 g0032 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02148 hp2 a0001 c0001 t0001 g0193 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02155 hp1 a0001 c0001 t0002 g0231 EAS CDX EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02155 hp2 a0001 c0001 t0001 g0010 EAS CDX EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02165 hp1 a0004 c0004 t0077 g0123 EAS CDX EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02165 hp2 a0001 c0001 t0001 g0188 EAS CDX EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02257 hp1 a0001 c0001 t0020 g0086 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02257 hp2 a0002 c0002 t0068 g0009 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02258 hp1 a0001 c0001 t0009 g0089 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02258 hp2 a0001 c0001 t0092 g0279 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02280 hp1 a0003 c0003 t0022 g0219 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02280 hp2 a0002 c0002 t0079 g0212 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02293 hp1 a0001 c0001 t0002 g0030 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02293 hp2 a0001 c0001 t0001 g0001 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02300 hp1 a0001 c0001 t0059 g0131 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02300 hp2 a0001 c0001 t0001 g0001 AMR PEL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02451 hp1 a0009 c0009 t0093 g0278 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02451 hp2 a0001 c0001 t0038 g0221 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02523 hp1 a0001 c0001 t0099 g0183 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02523 hp2 a0001 c0001 t0007 g0047 EAS KHV EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02572 hp1 a0007 c0007 t0001 g0160 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02572 hp2 a0002 c0002 t0055 g0214 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02602 hp1 a0001 c0001 t0002 g0033 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02602 hp2 a0002 c0002 t0037 g0149 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02615 hp1 a0008 c0008 t0014 g0095 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02615 hp2 a0002 c0002 t0071 g0148 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02622 hp1 a0003 c0003 t0003 g0218 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02622 hp2 a0002 c0002 t0027 g0009 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02630 hp1 a0002 c0002 t0064 g0213 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02630 hp2 a0006 c0006 t0056 g0196 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02683 hp1 a0001 c0001 t0040 g0132 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02683 hp2 a0001 c0001 t0032 g0297 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02698 hp1 a0001 c0001 t0030 g0048 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02698 hp2 a0004 c0004 t0081 g0133 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02717 hp1 a0001 c0010 t0050 g0204 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02717 hp2 a0007 c0007 t0001 g0163 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02723 hp1 a0001 c0001 t0001 g0189 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02723 hp2 a0001 c0001 t0094 g0295 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02735 hp1 a0001 c0001 t0006 g0006 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02735 hp2 a0001 c0001 t0001 g0075 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02809 hp1 a0001 c0001 t0004 g0232 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02809 hp2 a0001 c0001 t0009 g0090 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02818 hp1 a0002 c0002 t0048 g0307 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02818 hp2 a0001 c0001 t0009 g0093 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02886 hp1 a0001 c0001 t0082 g0234 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02886 hp2 a0006 c0006 t0017 g0014 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02895 hp1 a0001 c0001 t0011 g0063 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02895 hp2 a0001 c0010 t0001 g0206 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02896 hp1 a0001 c0001 t0083 g0274 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02896 hp2 a0002 c0002 t0034 g0208 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02897 hp1 a0001 c0001 t0011 g0062 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02897 hp2 a0002 c0002 t0034 g0216 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02922 hp1 a0001 c0001 t0020 g0087 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02922 hp2 a0002 c0002 t0090 g0114 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02965 hp1 a0002 c0002 t0053 g0209 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02965 hp2 a0001 c0001 t0005 g0293 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02970 hp1 a0002 c0002 t0063 g0141 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02970 hp2 a0001 c0001 t0004 g0235 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02976 hp1 a0001 c0001 t0006 g0294 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02976 hp2 a0001 c0001 t0088 g0056 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03017 hp1 a0001 c0001 t0002 g0273 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03017 hp2 a0001 c0001 t0001 g0168 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03041 hp1 a0002 c0002 t0021 g0306 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03041 hp2 a0001 c0001 t0031 g0111 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03098 hp1 a0001 c0001 t0009 g0008 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03098 hp2 a0001 c0001 t0004 g0005 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03130 hp1 a0002 c0002 t0024 g0009 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03130 hp2 a0001 c0001 t0004 g0005 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03139 hp1 a0001 c0001 t0022 g0068 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03139 hp2 a0009 c0009 t0046 g0281 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03195 hp1 a0002 c0002 t0021 g0305 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03195 hp2 a0001 c0001 t0004 g0223 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03209 hp1 a0008 c0008 t0014 g0012 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03209 hp2 a0001 c0001 t0004 g0224 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03225 hp1 a0008 c0008 t0014 g0012 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03225 hp2 a0001 c0001 t0041 g0220 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03239 hp1 a0001 c0001 t0049 g0282 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03239 hp2 a0001 c0001 t0040 g0130 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03453 hp1 a0011 c0013 t0004 g0143 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03453 hp2 a0001 c0001 t0004 g0236 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03486 hp1 a0001 c0001 t0001 g0179 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03486 hp2 a0003 c0003 t0003 g0004 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03491 hp1 a0001 c0001 t0002 g0272 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03491 hp2 a0001 c0001 t0044 g0034 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03516 hp1 a0009 c0009 t0091 g0280 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03516 hp2 a0001 c0001 t0095 g0197 AFR ESN EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03540 hp1 a0006 c0006 t0072 g0194 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03540 hp2 a0001 c0001 t0004 g0275 AFR GWD EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03579 hp1 a0002 c0002 t0043 g0145 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03579 hp2 a0007 c0007 t0001 g0161 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03654 hp1 a0001 c0001 t0074 g0042 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03654 hp2 a0001 c0001 t0001 g0078 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03669 hp1 a0001 c0001 t0002 g0033 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03669 hp2 a0001 c0001 t0001 g0181 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03688 hp1 a0001 c0001 t0012 g0046 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03688 hp2 a0001 c0001 t0002 g0269 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03704 hp1 a0001 c0001 t0001 g0011 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03704 hp2 a0003 c0003 t0003 g0004 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03710 hp1 a0001 c0001 t0001 g0077 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03710 hp2 a0001 c0001 t0001 g0185 SAS PJL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03831 hp1 a0001 c0001 t0002 g0271 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03831 hp2 a0001 c0001 t0039 g0198 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03834 hp1 a0001 c0001 t0011 g0050 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03834 hp2 a0001 c0001 t0001 g0158 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03927 hp1 a0001 c0011 t0011 g0019 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03927 hp2 a0003 c0003 t0003 g0097 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03942 hp1 a0001 c0001 t0012 g0019 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03942 hp2 a0001 c0001 t0054 g0301 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04115 hp1 a0001 c0001 t0001 g0154 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04115 hp2 a0001 c0001 t0057 g0299 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04184 hp1 a0001 c0001 t0002 g0266 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04184 hp2 a0004 c0004 t0061 g0025 SAS BEB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04199 hp1 a0001 c0001 t0001 g0164 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04199 hp2 a0001 c0001 t0002 g0260 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04204 hp1 a0001 c0001 t0002 g0270 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04204 hp2 a0001 c0001 t0010 g0026 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04228 hp1 a0004 c0004 t0008 g0070 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG04228 hp2 a0001 c0001 t0002 g0263 SAS STU EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18612 hp1 a0001 c0001 t0001 g0200 EAS CHB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18612 hp2 a0001 c0001 t0002 g0255 EAS CHB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18747 hp1 a0001 c0001 t0005 g0006 EAS CHB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18747 hp2 a0001 c0001 t0002 g0252 EAS CHB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18906 hp1 a0006 c0006 t0073 g0014 AFR YRI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18906 hp2 a0001 c0001 t0004 g0276 AFR YRI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18939 hp1 a0001 c0001 t0001 g0150 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18939 hp2 a0003 c0003 t0003 g0085 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18940 hp1 a0001 c0001 t0001 g0191 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18940 hp2 a0001 c0001 t0044 g0291 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18941 hp1 a0004 c0004 t0015 g0127 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18941 hp2 a0001 c0001 t0002 g0258 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18943 hp1 a0001 c0001 t0002 g0031 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18943 hp2 a0001 c0001 t0007 g0007 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18944 hp1 a0001 c0001 t0045 g0286 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18944 hp2 a0001 c0001 t0002 g0015 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18946 hp1 a0004 c0004 t0041 g0119 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18946 hp2 a0001 c0001 t0001 g0175 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18947 hp1 a0001 c0001 t0013 g0054 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18947 hp2 a0001 c0001 t0002 g0251 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18949 hp1 a0003 c0003 t0018 g0098 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18949 hp2 a0001 c0001 t0002 g0002 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18952 hp1 a0001 c0001 t0001 g0027 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18952 hp2 a0001 c0001 t0002 g0016 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18953 hp1 a0001 c0001 t0002 g0018 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18953 hp2 a0001 c0001 t0006 g0287 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18954 hp1 a0001 c0001 t0005 g0303 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18954 hp2 a0001 c0001 t0002 g0029 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18956 hp1 a0001 c0001 t0006 g0036 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18956 hp2 a0001 c0001 t0001 g0173 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18957 hp1 a0001 c0001 t0002 g0257 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18957 hp2 a0001 c0001 t0006 g0003 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18959 hp1 a0003 c0003 t0018 g0100 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18959 hp2 a0001 c0001 t0001 g0203 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18960 hp1 a0001 c0001 t0006 g0035 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18960 hp2 a0001 c0001 t0002 g0002 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18962 hp1 a0001 c0001 t0002 g0226 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18962 hp2 a0001 c0001 t0001 g0152 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18963 hp1 a0001 c0001 t0005 g0302 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18963 hp2 a0001 c0001 t0001 g0011 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18964 hp1 a0001 c0001 t0002 g0256 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18964 hp2 a0001 c0001 t0096 g0003 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18966 hp1 a0001 c0001 t0001 g0001 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18966 hp2 a0001 c0001 t0002 g0248 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18969 hp1 a0001 c0001 t0001 g0155 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18969 hp2 a0001 c0001 t0006 g0289 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18971 hp1 a0001 c0001 t0002 g0229 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18971 hp2 a0004 c0004 t0016 g0192 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18972 hp1 a0001 c0001 t0035 g0037 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18972 hp2 a0001 c0001 t0002 g0249 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18973 hp1 a0001 c0001 t0002 g0254 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18973 hp2 a0004 c0004 t0023 g0013 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18974 hp1 a0001 c0001 t0007 g0007 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18974 hp2 a0001 c0001 t0005 g0003 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18977 hp1 a0001 c0001 t0002 g0242 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18977 hp2 a0001 c0001 t0001 g0170 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18981 hp1 a0001 c0001 t0006 g0067 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18981 hp2 a0001 c0001 t0001 g0011 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18982 hp1 a0004 c0004 t0015 g0109 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18982 hp2 a0001 c0001 t0001 g0171 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18987 hp1 a0001 c0001 t0001 g0199 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18987 hp2 a0004 c0004 t0084 g0137 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18991 hp1 a0003 c0003 t0003 g0103 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18991 hp2 a0001 c0001 t0007 g0051 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18992 hp1 a0001 c0001 t0001 g0153 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18992 hp2 a0001 c0001 t0007 g0040 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18993 hp1 a0001 c0001 t0002 g0262 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18993 hp2 a0001 c0001 t0069 g0058 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19000 hp1 a0001 c0001 t0002 g0002 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19000 hp2 a0003 c0003 t0003 g0004 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19001 hp1 a0001 c0001 t0005 g0304 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19001 hp2 a0001 c0001 t0001 g0118 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19003 hp1 a0001 c0001 t0002 g0222 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19003 hp2 a0001 c0001 t0002 g0265 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19004 hp1 a0001 c0001 t0001 g0180 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19004 hp2 a0001 c0001 t0002 g0017 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19005 hp1 a0001 c0001 t0005 g0292 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19005 hp2 a0001 c0001 t0002 g0268 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19007 hp1 a0001 c0001 t0098 g0017 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19007 hp2 a0001 c0014 t0002 g0241 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19009 hp1 a0001 c0001 t0002 g0230 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19009 hp2 a0001 c0001 t0006 g0006 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19010 hp1 a0001 c0001 t0002 g0002 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19010 hp2 a0001 c0001 t0001 g0201 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19011 hp1 a0001 c0001 t0006 g0036 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19011 hp2 a0001 c0001 t0035 g0037 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19012 hp1 a0001 c0001 t0007 g0007 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19012 hp2 a0003 c0003 t0003 g0073 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19030 hp1 a0012 c0015 t0001 g0028 AFR LWK EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19030 hp2 a0001 c0001 t0030 g0039 AFR LWK EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19043 hp1 a0001 c0001 t0070 g0135 AFR LWK EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19043 hp2 a0007 c0007 t0051 g0162 AFR LWK EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19054 hp1 a0001 c0001 t0001 g0027 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19054 hp2 a0003 c0003 t0003 g0004 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19055 hp1 a0001 c0001 t0002 g0261 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19055 hp2 a0001 c0001 t0001 g0001 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19056 hp1 a0004 c0004 t0038 g0217 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19056 hp2 a0001 c0001 t0005 g0003 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19057 hp1 a0001 c0001 t0089 g0240 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19057 hp2 a0001 c0001 t0001 g0011 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19058 hp1 a0001 c0001 t0002 g0018 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19058 hp2 a0001 c0001 t0005 g0003 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19062 hp1 a0001 c0001 t0006 g0285 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19062 hp2 a0001 c0001 t0001 g0010 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19063 hp1 a0001 c0001 t0002 g0002 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19063 hp2 a0001 c0001 t0005 g0006 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19064 hp1 a0001 c0001 t0001 g0166 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19064 hp2 a0001 c0001 t0006 g0284 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19065 hp1 a0001 c0001 t0001 g0186 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19065 hp2 a0001 c0001 t0045 g0006 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19066 hp1 a0001 c0001 t0001 g0182 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19066 hp2 a0001 c0001 t0002 g0002 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19068 hp1 a0001 c0001 t0002 g0259 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19068 hp2 a0004 c0004 t0008 g0125 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19070 hp1 a0001 c0001 t0002 g0002 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19070 hp2 a0001 c0001 t0097 g0288 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19074 hp1 a0001 c0001 t0001 g0202 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19074 hp2 a0001 c0001 t0006 g0034 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19076 hp1 a0001 c0001 t0001 g0116 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19076 hp2 a0001 c0001 t0002 g0015 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19078 hp1 a0001 c0001 t0005 g0283 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19078 hp2 a0001 c0001 t0001 g0169 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19079 hp1 a0003 c0003 t0003 g0004 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19079 hp2 a0001 c0001 t0001 g0001 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19080 hp1 a0001 c0001 t0002 g0264 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19080 hp2 a0001 c0001 t0006 g0290 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19081 hp1 a0001 c0001 t0002 g0016 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19081 hp2 a0001 c0001 t0001 g0176 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19082 hp1 a0001 c0001 t0002 g0015 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19082 hp2 a0001 c0001 t0005 g0003 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19083 hp1 a0001 c0001 t0002 g0017 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19083 hp2 a0004 c0004 t0008 g0124 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19085 hp1 a0001 c0001 t0002 g0018 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19085 hp2 a0001 c0001 t0060 g0055 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19086 hp1 a0001 c0001 t0001 g0151 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19086 hp2 a0001 c0001 t0002 g0245 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19087 hp1 a0004 c0004 t0026 g0013 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19087 hp2 a0003 c0003 t0003 g0084 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19089 hp1 a0001 c0001 t0066 g0049 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19089 hp2 a0001 c0001 t0065 g0177 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19091 hp1 a0001 c0001 t0001 g0174 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19091 hp2 a0001 c0001 t0005 g0035 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19240 hp1 a0002 c0002 t0067 g0215 AFR YRI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA19240 hp2 a0001 c0001 t0020 g0094 AFR YRI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20129 hp1 a0001 c0001 t0001 g0001 AFR ASW EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20129 hp2 a0001 c0001 t0004 g0005 AFR ASW EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20752 hp1 a0003 c0003 t0003 g0024 EUR TSI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20752 hp2 a0001 c0001 t0012 g0059 EUR TSI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20805 hp1 a0001 c0001 t0001 g0157 EUR TSI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20805 hp2 a0003 c0003 t0003 g0024 EUR TSI EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20905 hp1 a0001 c0001 t0012 g0021 SAS GIH EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20905 hp2 a0004 c0004 t0025 g0025 SAS GIH EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01123 hp1 a0001 c0001 t0004 g0238 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG01123 hp2 a0001 c0001 t0010 g0129 AMR CLM EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02109 hp1 a0001 c0001 t0027 g0092 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02109 hp2 a0006 c0006 t0017 g0014 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02486 hp1 a0001 c0001 t0019 g0106 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02486 hp2 a0006 c0006 t0017 g0195 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02559 hp1 a0001 c0001 t0019 g0091 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG02559 hp2 a0002 c0002 t0058 g0147 AFR ACB EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03471 hp1 a0001 c0001 t0031 g0134 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG03471 hp2 a0001 c0001 t0001 g0107 AFR MSL EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG06807 hp1 a0002 c0002 t0086 g0071 AFR USA EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
HG06807 hp2 a0002 c0002 t0033 g0009 AFR USA EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18955 hp1 a0003 c0003 t0018 g0004 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA18955 hp2 a0001 c0001 t0005 g0003 EAS JPT EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20300 hp1 a0004 c0004 t0036 g0128 AFR USA EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA20300 hp2 a0001 c0001 t0004 g0237 AFR USA EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA21309 hp1 a0001 c0001 t0001 g0028 AFR LWK EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
NA21309 hp2 a0002 c0002 t0078 g0211 AFR LWK EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
homoSapiens_chm13v2 hp1 a0001 c0001 t0007 g0065 REF REF EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198
homoSapiens_grch38 hp1 a0001 c0001 t0003 g0277 REF REF EFHC1_chr6_52415342_52502198 EFHC1 chr6 52415342 52502198

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
chr6:52424111 C
C
 A
A
 1 a0006
a0006
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 missense_variant MODERATE c.229C>A
c.229C>A
 p.Pro77Thr
p.Pro77Thr
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/11 298/6849 229/1923 77/640 chr6 52424111
chr6:52438493 C
C
 G
G
 1 a0007
a0007
 5 HG01884.hp1
HG02572.hp1
HG02717.hp2
others(2): Show 
HG01884.hp1
HG02572.hp1
HG02717.hp2
HG03579.hp2
NA19043.hp2
 missense_variant MODERATE c.475C>G
c.475C>G
 p.Arg159Gly
p.Arg159Gly
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/11 544/6849 475/1923 159/640 chr6 52438493
chr6:52438493 C
C
 T
T
 1 a0003
a0003
 25 HG00642.hp1
HG00733.hp1
HG01070.hp1
others(22): Show 
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01934.hp2
HG02071.hp2
HG02132.hp2
HG02280.hp1
HG02622.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA20752.hp1
NA20805.hp2
 missense_variant MODERATE c.475C>T
c.475C>T
 p.Arg159Trp
p.Arg159Trp
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/11 544/6849 475/1923 159/640 chr6 52438493
chr6:52438563 G
G
 A
A
 2 a0004
a0010
a0004
a0010
 23 HG00280.hp1
HG00408.hp1
HG00544.hp1
others(20): Show 
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG01496.hp2
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02698.hp2
HG04184.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 missense_variant MODERATE c.545G>A
c.545G>A
 p.Arg182His
p.Arg182His
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/11 614/6849 545/1923 182/640 chr6 52438563
chr6:52452743 A
A
 T
T
 1 a0008
a0008
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 missense_variant MODERATE c.629A>T
c.629A>T
 p.Asp210Val
p.Asp210Val
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/11 698/6849 629/1923 210/640 chr6 52452743
chr6:52452776 G
G
 A
A
 1 a0006
a0006
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 missense_variant MODERATE c.662G>A
c.662G>A
 p.Arg221His
p.Arg221His
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/11 731/6849 662/1923 221/640 chr6 52452776
chr6:52454252 G
G
 A
A
 1 a0011
a0011
 1 HG03453.hp1
HG03453.hp1
 missense_variant MODERATE c.881G>A
c.881G>A
 p.Arg294His
p.Arg294His
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/11 950/6849 881/1923 294/640 chr6 52454252
chr6:52454257 C
C
 T
T
 1 a0010
a0010
 1 HG00544.hp1
HG00544.hp1
 missense_variant MODERATE c.886C>T
c.886C>T
 p.Arg296Cys
p.Arg296Cys
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/11 955/6849 886/1923 296/640 chr6 52454257
chr6:52454258 G
G
 A
A
 1 a0009
a0009
 3 HG02451.hp1
HG03139.hp2
HG03516.hp1
HG02451.hp1
HG03139.hp2
HG03516.hp1
 missense_variant MODERATE c.887G>A
c.887G>A
 p.Arg296His
p.Arg296His
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/11 956/6849 887/1923 296/640 chr6 52454258
chr6:52479101 T
T
 C
C
 2 a0002
a0011
a0002
a0011
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 missense_variant MODERATE c.1343T>C
c.1343T>C
 p.Met448Thr
p.Met448Thr
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 8/11 1412/6849 1343/1923 448/640 chr6 52479101
chr6:52490319 A
A
 G
G
 1 a0012
a0012
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.1820A>G
c.1820A>G
 p.Asn607Ser
p.Asn607Ser
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/11 1889/6849 1820/1923 607/640 chr6 52490319
chr6:52492273 A
A
 C
C
 1 a0005
a0005
 9 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(6): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02145.hp1
 missense_variant MODERATE c.1855A>C
c.1855A>C
 p.Ile619Leu
p.Ile619Leu
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1924/6849 1855/1923 619/640 chr6 52492273

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
chr6:52424092 A
A
 G
G
 1 a0001c0010
a0001c0010
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 synonymous_variant LOW c.210A>G
c.210A>G
 p.Pro70Pro
p.Pro70Pro
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/11 279/6849 210/1923 70/640 chr6 52424092
chr6:52424131 G
G
 A
A
 1 a0001c0011
a0001c0011
 1 HG03927.hp1
HG03927.hp1
 synonymous_variant LOW c.249G>A
c.249G>A
 p.Ala83Ala
p.Ala83Ala
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/11 318/6849 249/1923 83/640 chr6 52424131
chr6:52469389 T
T
 C
C
 1 a0001c0014
a0001c0014
 1 NA19007.hp2
NA19007.hp2
 synonymous_variant LOW c.1194T>C
c.1194T>C
 p.Phe398Phe
p.Phe398Phe
 EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/11 1263/6849 1194/1923 398/640 chr6 52469389

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
chr6:52492407 C
C
 G
G
 1 a0001c0001t0099
a0001c0001t0099
 1 HG02523.hp1
HG02523.hp1
 3_prime_UTR_variant MODIFIER c.*66C>G
c.*66C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 66 chr6 52492407
chr6:52492440 T
T
 A
A
 1 a0009c0009t0046
a0009c0009t0046
 1 HG03139.hp2
HG03139.hp2
 3_prime_UTR_variant MODIFIER c.*99T>A
c.*99T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 99 chr6 52492440
chr6:52492462 C
C
 A
A
 112 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(109): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0025
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0044
a0001c0001t0045
a0001c0001t0047
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0059
a0001c0001t0060
a0001c0001t0062
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0001c0001t0074
a0001c0001t0076
a0001c0001t0082
a0001c0001t0083
a0001c0001t0085
a0001c0001t0087
a0001c0001t0088
a0001c0001t0089
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0010t0001
a0001c0010t0050
a0001c0010t0052
a0001c0011t0011
a0001c0014t0002
a0002c0002t0021
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0034
a0002c0002t0037
a0002c0002t0043
a0002c0002t0048
a0002c0002t0053
a0002c0002t0055
a0002c0002t0058
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0068
a0002c0002t0071
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
a0002c0002t0086
a0002c0002t0090
a0003c0003t0022
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0005c0005t0001
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
a0007c0007t0001
a0007c0007t0051
a0009c0009t0046
a0009c0009t0091
a0009c0009t0093
a0010c0012t0015
a0011c0013t0004
a0012c0015t0001
 355 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(352): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.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
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*121C>A
c.*121C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 121 chr6 52492462
chr6:52492481 C
C
 A
A
 1 a0003c0003t0018
a0003c0003t0018
 3 NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18949.hp1
NA18955.hp1
NA18959.hp1
 3_prime_UTR_variant MODIFIER c.*140C>A
c.*140C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 140 chr6 52492481
chr6:52492482 G
G
 A
A
 1 a0001c0001t0047
a0001c0001t0047
 1 HG01928.hp1
HG01928.hp1
 3_prime_UTR_variant MODIFIER c.*141G>A
c.*141G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 141 chr6 52492482
chr6:52492567 A
A
 G
G
 1 a0001c0001t0098
a0001c0001t0098
 1 NA19007.hp1
NA19007.hp1
 3_prime_UTR_variant MODIFIER c.*226A>G
c.*226A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 226 chr6 52492567
chr6:52492672 T
T
 C
C
 2 a0002c0002t0021
a0002c0002t0048
a0002c0002t0021
a0002c0002t0048
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 3_prime_UTR_variant MODIFIER c.*331T>C
c.*331T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 331 chr6 52492672
chr6:52492733 A
A
 C
C
 11 a0001c0001t0005
a0001c0001t0006
a0001c0001t0044
others(8): Show 
a0001c0001t0005
a0001c0001t0006
a0001c0001t0044
a0001c0001t0045
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0009c0009t0091
a0009c0009t0093
 40 HG01192.hp1
HG02258.hp2
HG02451.hp1
others(37): Show 
HG01192.hp1
HG02258.hp2
HG02451.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*392A>C
c.*392A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 392 chr6 52492733
chr6:52493033 A
A
 G
G
 2 a0002c0002t0043
a0002c0002t0090
a0002c0002t0043
a0002c0002t0090
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*692A>G
c.*692A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 692 chr6 52493033
chr6:52493212 C
C
 G
G
 5 a0001c0001t0002
a0001c0001t0042
a0001c0001t0089
others(2): Show 
a0001c0001t0002
a0001c0001t0042
a0001c0001t0089
a0001c0001t0098
a0001c0014t0002
 75 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*871C>G
c.*871C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 871 chr6 52493212
chr6:52493222 A
A
 T
T
 116 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(113): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0019
a0001c0001t0020
a0001c0001t0022
a0001c0001t0023
a0001c0001t0025
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0044
a0001c0001t0045
a0001c0001t0047
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0059
a0001c0001t0060
a0001c0001t0062
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0001c0001t0074
a0001c0001t0076
a0001c0001t0082
a0001c0001t0083
a0001c0001t0085
a0001c0001t0087
a0001c0001t0088
a0001c0001t0089
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0010t0001
a0001c0010t0050
a0001c0010t0052
a0001c0011t0011
a0001c0014t0002
a0002c0002t0021
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0034
a0002c0002t0037
a0002c0002t0043
a0002c0002t0048
a0002c0002t0053
a0002c0002t0055
a0002c0002t0058
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0068
a0002c0002t0071
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
a0002c0002t0086
a0002c0002t0090
a0003c0003t0022
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0005c0005t0001
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
a0007c0007t0001
a0007c0007t0051
a0008c0008t0014
a0009c0009t0046
a0009c0009t0091
a0009c0009t0093
a0010c0012t0015
a0011c0013t0004
a0012c0015t0001
 371 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(368): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.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
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.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
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*881A>T
c.*881A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 881 chr6 52493222
chr6:52493243 G
G
 C
C
 2 a0001c0001t0022
a0003c0003t0022
a0001c0001t0022
a0003c0003t0022
 2 HG02280.hp1
HG03139.hp1
HG02280.hp1
HG03139.hp1
 3_prime_UTR_variant MODIFIER c.*902G>C
c.*902G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 902 chr6 52493243
chr6:52493342 A
A
 C
C
 1 a0001c0001t0097
a0001c0001t0097
 1 NA19070.hp2
NA19070.hp2
 3_prime_UTR_variant MODIFIER c.*1001A>C
c.*1001A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1001 chr6 52493342
chr6:52493360 C
C
 A
A
 1 a0001c0001t0049
a0001c0001t0049
 1 HG03239.hp1
HG03239.hp1
 3_prime_UTR_variant MODIFIER c.*1019C>A
c.*1019C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1019 chr6 52493360
chr6:52493364 A
A
 C
C
 3 a0001c0001t0009
a0001c0001t0019
a0001c0001t0020
a0001c0001t0009
a0001c0001t0019
a0001c0001t0020
 12 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(9): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1023A>C
c.*1023A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1023 chr6 52493364
chr6:52493365 C
C
 CATAT
CATAT
 11 a0001c0001t0002
a0001c0001t0004
a0001c0001t0047
others(8): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0047
a0001c0001t0082
a0001c0001t0083
a0001c0001t0089
a0001c0001t0098
a0001c0014t0002
a0004c0004t0084
a0009c0009t0046
a0011c0013t0004
 94 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(91): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18987.hp2
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*1041_*1044dupATAT
c.*1041_*1044dupATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATAT
CATATAT
 2 a0001c0001t0042
a0004c0004t0081
a0001c0001t0042
a0004c0004t0081
 3 HG01081.hp1
HG02083.hp2
HG02698.hp2
HG01081.hp1
HG02083.hp2
HG02698.hp2
 3_prime_UTR_variant MODIFIER c.*1039_*1044dupATAT
others(2): Show 
c.*1039_*1044dupATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(3): Show 
CATATATATAT
 1 a0002c0002t0080
a0002c0002t0080
 1 HG01069.hp2
HG01069.hp2
 3_prime_UTR_variant MODIFIER c.*1035_*1044dupATAT
others(6): Show 
c.*1035_*1044dupATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 5 a0001c0001t0039
a0001c0001t0040
a0001c0001t0045
others(2): Show 
a0001c0001t0039
a0001c0001t0040
a0001c0001t0045
a0002c0002t0078
a0002c0002t0079
 8 HG01106.hp2
HG02280.hp2
HG02683.hp1
others(5): Show 
HG01106.hp2
HG02280.hp2
HG02683.hp1
HG03239.hp2
HG03831.hp2
NA18944.hp1
NA19065.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1033_*1044dupATAT
others(8): Show 
c.*1033_*1044dupATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(7): Show 
CATATATATATATAT
 2 a0001c0001t0006
a0001c0001t0097
a0001c0001t0006
a0001c0001t0097
 15 HG02735.hp1
HG02976.hp1
NA18953.hp2
others(12): Show 
HG02735.hp1
HG02976.hp1
NA18953.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18969.hp2
NA18981.hp1
NA19009.hp2
NA19011.hp1
NA19062.hp1
NA19064.hp2
NA19070.hp2
NA19074.hp2
NA19080.hp2
 3_prime_UTR_variant MODIFIER c.*1031_*1044dupATAT
others(10): Show 
c.*1031_*1044dupATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(9): Show 
CATATATATATATATAT
 4 a0001c0001t0005
a0001c0001t0038
a0001c0001t0096
others(1): Show 
a0001c0001t0005
a0001c0001t0038
a0001c0001t0096
a0004c0004t0038
 18 HG01192.hp1
HG02451.hp2
HG02965.hp2
others(15): Show 
HG01192.hp1
HG02451.hp2
HG02965.hp2
NA18747.hp1
NA18954.hp1
NA18955.hp2
NA18963.hp1
NA18964.hp2
NA18974.hp2
NA19001.hp1
NA19005.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19063.hp2
NA19078.hp1
NA19082.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*1029_*1044dupATAT
others(12): Show 
c.*1029_*1044dupATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(11): Show 
CATATATATATATATATAT
 4 a0001c0001t0007
a0001c0001t0044
a0001c0001t0076
others(1): Show 
a0001c0001t0007
a0001c0001t0044
a0001c0001t0076
a0004c0004t0077
 17 HG00280.hp2
HG01255.hp2
HG01433.hp2
others(14): Show 
HG00280.hp2
HG01255.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG02074.hp1
HG02132.hp1
HG02165.hp1
HG02523.hp2
HG03491.hp2
NA18940.hp2
NA18943.hp2
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA19012.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1027_*1044dupATAT
others(14): Show 
c.*1027_*1044dupATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(13): Show 
CATATATATATATATATATAT
 8 a0001c0001t0013
a0001c0001t0037
a0001c0001t0074
others(5): Show 
a0001c0001t0013
a0001c0001t0037
a0001c0001t0074
a0001c0001t0094
a0001c0001t0095
a0002c0002t0037
a0004c0004t0075
a0006c0006t0073
 12 HG01109.hp2
HG01243.hp2
HG01358.hp1
others(9): Show 
HG01109.hp2
HG01243.hp2
HG01358.hp1
HG01516.hp1
HG02074.hp2
HG02145.hp2
HG02602.hp2
HG02723.hp2
HG03516.hp2
HG03654.hp1
NA18906.hp1
NA18947.hp1
 3_prime_UTR_variant MODIFIER c.*1025_*1044dupATAT
others(16): Show 
c.*1025_*1044dupATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(15): Show 
CATATATATATATATATATATAT
 4 a0001c0001t0012
a0001c0001t0035
a0002c0002t0071
others(1): Show 
a0001c0001t0012
a0001c0001t0035
a0002c0002t0071
a0006c0006t0017
 11 HG00140.hp2
HG02109.hp2
HG02486.hp2
others(8): Show 
HG00140.hp2
HG02109.hp2
HG02486.hp2
HG02615.hp2
HG02886.hp2
HG03688.hp1
HG03942.hp1
NA18972.hp1
NA19011.hp2
NA20752.hp2
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(18): Show 
c.*1044_*1045insATATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(17): Show 
CATATATATATATATATATATATAT
 8 a0001c0001t0011
a0001c0001t0036
a0001c0001t0092
others(5): Show 
a0001c0001t0011
a0001c0001t0036
a0001c0001t0092
a0001c0011t0011
a0002c0002t0034
a0002c0002t0068
a0004c0004t0036
a0009c0009t0093
 12 HG01433.hp1
HG02015.hp2
HG02257.hp2
others(9): Show 
HG01433.hp1
HG02015.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03834.hp1
HG03927.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(20): Show 
c.*1044_*1045insATATATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(19): Show 
CATATATATATATATATATATATATAT
 7 a0001c0001t0032
a0001c0001t0066
a0001c0001t0069
others(4): Show 
a0001c0001t0032
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0002c0002t0021
a0002c0002t0033
a0002c0002t0067
 10 HG01099.hp1
HG02129.hp2
HG02683.hp2
others(7): Show 
HG01099.hp1
HG02129.hp2
HG02683.hp2
HG03041.hp1
HG03195.hp1
HG06807.hp2
NA18993.hp2
NA19043.hp1
NA19089.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(22): Show 
c.*1044_*1045insATATATATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(21): Show 
CATATATATATATATATATATATATATAT
 3 a0001c0001t0062
a0002c0002t0063
a0002c0002t0064
a0001c0001t0062
a0002c0002t0063
a0002c0002t0064
 3 HG00438.hp1
HG02630.hp1
HG02970.hp1
HG00438.hp1
HG02630.hp1
HG02970.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(24): Show 
c.*1044_*1045insATATATATATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(23): Show 
CATATATATATATATATATATATATATATAT
 7 a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
others(4): Show 
a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
a0001c0001t0049
a0002c0002t0043
a0004c0004t0016
a0009c0009t0091
 11 HG00738.hp2
HG01175.hp2
HG01258.hp2
others(8): Show 
HG00738.hp2
HG01175.hp2
HG01258.hp2
HG02698.hp1
HG03041.hp2
HG03239.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp1
NA18971.hp2
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(26): Show 
c.*1044_*1045insATATATATATATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(25): Show 
CATATATATATATATATATATATATATATATAT
 8 a0001c0001t0010
a0001c0001t0027
a0001c0001t0029
others(5): Show 
a0001c0001t0010
a0001c0001t0027
a0001c0001t0029
a0001c0001t0060
a0002c0002t0027
a0002c0002t0090
a0004c0004t0010
a0004c0004t0061
 12 HG00099.hp2
HG00733.hp2
HG01069.hp1
others(9): Show 
HG00099.hp2
HG00733.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01496.hp2
HG02109.hp1
HG02622.hp2
HG02922.hp2
HG04184.hp2
HG04204.hp2
NA19085.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(28): Show 
c.*1044_*1045insATATATATATATATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(27): Show 
CATATATATATATATATATATATATATATATATAT
 7 a0001c0001t0008
a0001c0001t0028
a0001c0001t0057
others(4): Show 
a0001c0001t0008
a0001c0001t0028
a0001c0001t0057
a0001c0001t0059
a0002c0002t0048
a0002c0002t0058
a0004c0004t0008
 12 HG00280.hp1
HG01257.hp2
HG01258.hp1
others(9): Show 
HG00280.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG02135.hp1
HG02300.hp1
HG02559.hp2
HG02818.hp1
HG04115.hp2
HG04228.hp1
NA19068.hp2
NA19083.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(30): Show 
c.*1044_*1045insATATATATATATATATATATATATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(29): Show 
CATATATATATATATATATATATATATATATATATAT
 3 a0001c0001t0054
a0002c0002t0055
a0004c0004t0026
a0001c0001t0054
a0002c0002t0055
a0004c0004t0026
 4 HG00408.hp1
HG02572.hp2
HG03942.hp2
others(1): Show 
HG00408.hp1
HG02572.hp2
HG03942.hp2
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(32): Show 
c.*1044_*1045insATATATATATATATATATATATATATATATATAT
AT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(31): Show 
CATATATATATATATATATATATATATATATATATATAT
 4 a0002c0002t0053
a0004c0004t0015
a0006c0006t0056
others(1): Show 
a0002c0002t0053
a0004c0004t0015
a0006c0006t0056
a0010c0012t0015
 5 HG00544.hp1
HG02630.hp2
HG02965.hp1
others(2): Show 
HG00544.hp1
HG02630.hp2
HG02965.hp1
NA18941.hp1
NA18982.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(34): Show 
c.*1044_*1045insATATATATATATATATATATATATATATATATAT
ATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(33): Show 
CATATATATATATATATATATATATATATATATATATATAT
 3 a0001c0001t0025
a0002c0002t0024
a0004c0004t0025
a0001c0001t0025
a0002c0002t0024
a0004c0004t0025
 4 HG00735.hp1
HG01168.hp1
HG03130.hp1
others(1): Show 
HG00735.hp1
HG01168.hp1
HG03130.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(36): Show 
c.*1044_*1045insATATATATATATATATATATATATATATATATAT
ATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 CATATATA
others(37): Show 
CATATATATATATATATATATATATATATATATATATATATATAT
 2 a0001c0001t0023
a0004c0004t0023
a0001c0001t0023
a0004c0004t0023
 2 HG01346.hp1
NA18973.hp2
HG01346.hp1
NA18973.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(40): Show 
c.*1044_*1045insATATATATATATATATATATATATATATATATAT
ATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493365
chr6:52493365 C
C
 T
T
 3 a0001c0001t0009
a0001c0001t0019
a0001c0001t0020
a0001c0001t0009
a0001c0001t0019
a0001c0001t0020
 12 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(9): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1024C>T
c.*1024C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1024 chr6 52493365
chr6:52493366 A
A
 C
C
 3 a0001c0001t0009
a0001c0001t0019
a0001c0001t0020
a0001c0001t0009
a0001c0001t0019
a0001c0001t0020
 12 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(9): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1025A>C
c.*1025A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1025 chr6 52493366
chr6:52493368 A
A
 C
C
 2 a0001c0001t0019
a0001c0001t0020
a0001c0001t0019
a0001c0001t0020
 6 HG01884.hp2
HG02257.hp1
HG02486.hp1
others(3): Show 
HG01884.hp2
HG02257.hp1
HG02486.hp1
HG02559.hp1
HG02922.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1027A>C
c.*1027A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1027 chr6 52493368
chr6:52493369 T
T
 TATATATA
others(33): Show 
TATATATATATATATATATATATATATATATATATATATAC
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(36): Show 
c.*1044_*1045insATATATATATATATATATATATACATATATATAT
ATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493369
chr6:52493370 A
A
 C
C
 1 a0001c0001t0020
a0001c0001t0020
 3 HG02257.hp1
HG02922.hp1
NA19240.hp2
HG02257.hp1
HG02922.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1029A>C
c.*1029A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1029 chr6 52493370
chr6:52493373 T
T
 TATATATA
others(25): Show 
TATATATATATATATATATATATATATATATAC
 1 a0001c0010t0050
a0001c0010t0050
 1 HG02717.hp1
HG02717.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(28): Show 
c.*1044_*1045insATATATATATATATATATACATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493373
chr6:52493373 T
T
 TATATATA
others(45): Show 
TATATATATATATATATATATATATATATATATATATATATATATATATA
TAC
 1 a0001c0010t0052
a0001c0010t0052
 1 HG01891.hp2
HG01891.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(48): Show 
c.*1044_*1045insATATATATATATATATATATATATATATATATAT
ATATACATATATATATAT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 INFO_REALIGN_3_PRIME chr6 52493373
chr6:52493385 T
T
 TATATATA
others(14): Show 
TATATATATATATATATATATA
 1 a0001c0001t0065
a0001c0001t0065
 1 NA19089.hp2
NA19089.hp2
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(17): Show 
c.*1044_*1045insATATATATATATATATATATA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 chr6 52493385
chr6:52493385 T
T
 TATATATA
others(16): Show 
TATATATATATATATATATATATA
 1 a0006c0006t0072
a0006c0006t0072
 1 HG03540.hp1
HG03540.hp1
 3_prime_UTR_variant MODIFIER c.*1044_*1045insATAT
others(19): Show 
c.*1044_*1045insATATATATATATATATATATATA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 chr6 52493385
chr6:52493386 T
T
 A
A
 42 a0001c0001t0005
a0001c0001t0006
a0001c0001t0027
others(39): Show 
a0001c0001t0005
a0001c0001t0006
a0001c0001t0027
a0001c0001t0032
a0001c0001t0035
a0001c0001t0037
a0001c0001t0039
a0001c0001t0044
a0001c0001t0045
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0062
a0001c0001t0066
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0010t0050
a0001c0010t0052
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0034
a0002c0002t0037
a0002c0002t0043
a0002c0002t0053
a0002c0002t0055
a0002c0002t0058
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0068
a0002c0002t0071
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
a0002c0002t0090
a0007c0007t0051
a0009c0009t0091
a0009c0009t0093
 78 HG00438.hp1
HG00735.hp1
HG01069.hp2
others(75): Show 
HG00438.hp1
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01106.hp2
HG01175.hp2
HG01192.hp1
HG01891.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03130.hp1
HG03239.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03831.hp2
HG03942.hp2
HG04115.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19089.hp1
NA19091.hp2
NA19240.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1045T>A
c.*1045T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1045 chr6 52493386
chr6:52493387 T
T
 A
A
 1 a0001c0001t0065
a0001c0001t0065
 1 NA19089.hp2
NA19089.hp2
 3_prime_UTR_variant MODIFIER c.*1046T>A
c.*1046T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1046 chr6 52493387
chr6:52493521 G
G
 A
A
 112 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(109): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0025
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0044
a0001c0001t0045
a0001c0001t0047
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0059
a0001c0001t0060
a0001c0001t0062
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0001c0001t0074
a0001c0001t0076
a0001c0001t0082
a0001c0001t0083
a0001c0001t0085
a0001c0001t0087
a0001c0001t0088
a0001c0001t0089
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0010t0001
a0001c0010t0050
a0001c0010t0052
a0001c0011t0011
a0001c0014t0002
a0002c0002t0021
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0034
a0002c0002t0037
a0002c0002t0043
a0002c0002t0048
a0002c0002t0053
a0002c0002t0055
a0002c0002t0058
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0068
a0002c0002t0071
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
a0002c0002t0086
a0002c0002t0090
a0003c0003t0022
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0005c0005t0001
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
a0007c0007t0001
a0007c0007t0051
a0009c0009t0046
a0009c0009t0091
a0009c0009t0093
a0010c0012t0015
a0011c0013t0004
a0012c0015t0001
 355 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(352): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.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
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1180G>A
c.*1180G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1180 chr6 52493521
chr6:52493655 C
C
 CA
CA
 12 a0001c0001t0002
a0001c0001t0004
a0001c0001t0042
others(9): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0042
a0001c0001t0047
a0001c0001t0082
a0001c0001t0083
a0001c0001t0085
a0001c0001t0089
a0001c0001t0098
a0001c0014t0002
a0009c0009t0046
a0011c0013t0004
 96 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(93): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*1325dupA
c.*1325dupA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1326 INFO_REALIGN_3_PRIME chr6 52493655
chr6:52493677 A
A
 G
G
 2 a0002c0002t0043
a0002c0002t0090
a0002c0002t0043
a0002c0002t0090
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*1336A>G
c.*1336A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1336 chr6 52493677
chr6:52493724 T
T
 C
C
 1 a0002c0002t0086
a0002c0002t0086
 1 HG06807.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*1383T>C
c.*1383T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1383 chr6 52493724
chr6:52493831 C
C
 A
A
 9 a0001c0001t0001
a0001c0001t0022
a0001c0001t0087
others(6): Show 
a0001c0001t0001
a0001c0001t0022
a0001c0001t0087
a0001c0001t0099
a0001c0010t0001
a0003c0003t0022
a0005c0005t0001
a0007c0007t0001
a0012c0015t0001
 91 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(88): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1490C>A
c.*1490C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1490 chr6 52493831
chr6:52494089 T
T
 TCA
TCA
 112 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(109): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0025
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0044
a0001c0001t0045
a0001c0001t0047
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0059
a0001c0001t0060
a0001c0001t0062
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0001c0001t0074
a0001c0001t0076
a0001c0001t0082
a0001c0001t0083
a0001c0001t0085
a0001c0001t0087
a0001c0001t0088
a0001c0001t0089
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0010t0001
a0001c0010t0050
a0001c0010t0052
a0001c0011t0011
a0001c0014t0002
a0002c0002t0021
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0034
a0002c0002t0037
a0002c0002t0043
a0002c0002t0048
a0002c0002t0053
a0002c0002t0055
a0002c0002t0058
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0068
a0002c0002t0071
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
a0002c0002t0086
a0002c0002t0090
a0003c0003t0022
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0005c0005t0001
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
a0007c0007t0001
a0007c0007t0051
a0009c0009t0046
a0009c0009t0091
a0009c0009t0093
a0010c0012t0015
a0011c0013t0004
a0012c0015t0001
 355 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(352): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.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
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1749_*1750insAC
c.*1749_*1750insAC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1750 INFO_REALIGN_3_PRIME chr6 52494089
chr6:52494143 G
G
 A
A
 3 a0001c0010t0050
a0001c0010t0052
a0007c0007t0051
a0001c0010t0050
a0001c0010t0052
a0007c0007t0051
 3 HG01891.hp2
HG02717.hp1
NA19043.hp2
HG01891.hp2
HG02717.hp1
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*1802G>A
c.*1802G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 1802 chr6 52494143
chr6:52494404 C
C
 A
A
 1 a0001c0001t0076
a0001c0001t0076
 1 HG02074.hp1
HG02074.hp1
 3_prime_UTR_variant MODIFIER c.*2063C>A
c.*2063C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2063 chr6 52494404
chr6:52494460 G
G
 A
A
 2 a0001c0001t0029
a0001c0001t0059
a0001c0001t0029
a0001c0001t0059
 3 HG01069.hp1
HG01071.hp2
HG02300.hp1
HG01069.hp1
HG01071.hp2
HG02300.hp1
 3_prime_UTR_variant MODIFIER c.*2119G>A
c.*2119G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2119 chr6 52494460
chr6:52494505 G
G
 A
A
 7 a0001c0001t0005
a0001c0001t0006
a0001c0001t0044
others(4): Show 
a0001c0001t0005
a0001c0001t0006
a0001c0001t0044
a0001c0001t0045
a0001c0001t0094
a0001c0001t0096
a0001c0001t0097
 36 HG01192.hp1
HG02723.hp2
HG02735.hp1
others(33): Show 
HG01192.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*2164G>A
c.*2164G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2164 chr6 52494505
chr6:52494657 T
T
 C
C
 1 a0001c0001t0096
a0001c0001t0096
 1 NA18964.hp2
NA18964.hp2
 3_prime_UTR_variant MODIFIER c.*2316T>C
c.*2316T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2316 chr6 52494657
chr6:52494684 C
C
 G
G
 1 a0008c0008t0014
a0008c0008t0014
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 3_prime_UTR_variant MODIFIER c.*2343C>G
c.*2343C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2343 chr6 52494684
chr6:52494760 A
A
 G
G
 29 a0001c0001t0008
a0001c0001t0010
a0001c0001t0016
others(26): Show 
a0001c0001t0008
a0001c0001t0010
a0001c0001t0016
a0001c0001t0023
a0001c0001t0025
a0001c0001t0029
a0001c0001t0031
a0001c0001t0036
a0001c0001t0038
a0001c0001t0040
a0001c0001t0041
a0001c0001t0059
a0001c0001t0070
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0010c0012t0015
 42 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(39): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*2419A>G
c.*2419A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2419 chr6 52494760
chr6:52494918 C
C
 T
T
 1 a0001c0001t0089
a0001c0001t0089
 1 NA19057.hp1
NA19057.hp1
 3_prime_UTR_variant MODIFIER c.*2577C>T
c.*2577C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2577 chr6 52494918
chr6:52495168 G
G
 A
A
 4 a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
others(1): Show 
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2827G>A
c.*2827G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2827 chr6 52495168
chr6:52495313 C
C
 G
G
 10 a0001c0001t0001
a0001c0001t0022
a0001c0001t0039
others(7): Show 
a0001c0001t0001
a0001c0001t0022
a0001c0001t0039
a0001c0001t0087
a0001c0001t0099
a0001c0010t0001
a0003c0003t0022
a0005c0005t0001
a0007c0007t0001
a0012c0015t0001
 93 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(90): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2972C>G
c.*2972C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 2972 chr6 52495313
chr6:52495408 CCTCCTGT
others(5): Show 
CCTCCTGTGGTAG
 C
C
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3068_*3079delCTCC
others(8): Show 
c.*3068_*3079delCTCCTGTGGTAG
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3068 chr6 52495408
chr6:52495411 C
C
 T
T
 1 a0001c0001t0074
a0001c0001t0074
 1 HG03654.hp1
HG03654.hp1
 3_prime_UTR_variant MODIFIER c.*3070C>T
c.*3070C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3070 chr6 52495411
chr6:52495423 G
G
 C
C
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3082G>C
c.*3082G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3082 chr6 52495423
chr6:52495424 A
A
 G
G
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3083A>G
c.*3083A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3083 chr6 52495424
chr6:52495425 G
G
 C
C
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3084G>C
c.*3084G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3084 chr6 52495425
chr6:52495456 G
G
 C
C
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3115G>C
c.*3115G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3115 chr6 52495456
chr6:52495459 T
T
 A
A
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3118T>A
c.*3118T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3118 chr6 52495459
chr6:52495461 G
G
 A
A
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3120G>A
c.*3120G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3120 chr6 52495461
chr6:52495465 G
G
 T
T
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3124G>T
c.*3124G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3124 chr6 52495465
chr6:52495472 T
T
 A
A
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3131T>A
c.*3131T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3131 chr6 52495472
chr6:52495485 T
T
 A
A
 102 a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
others(99): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0023
a0001c0001t0025
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0044
a0001c0001t0045
a0001c0001t0047
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0059
a0001c0001t0060
a0001c0001t0062
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0001c0001t0074
a0001c0001t0076
a0001c0001t0082
a0001c0001t0083
a0001c0001t0085
a0001c0001t0088
a0001c0001t0089
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0010t0050
a0001c0010t0052
a0001c0011t0011
a0001c0014t0002
a0002c0002t0021
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0034
a0002c0002t0037
a0002c0002t0043
a0002c0002t0048
a0002c0002t0053
a0002c0002t0055
a0002c0002t0058
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0068
a0002c0002t0071
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
a0002c0002t0086
a0002c0002t0090
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
a0007c0007t0051
a0009c0009t0046
a0009c0009t0091
a0009c0009t0093
a0010c0012t0015
a0011c0013t0004
 262 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(259): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3144T>A
c.*3144T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3144 chr6 52495485
chr6:52495533 G
G
 A
A
 20 a0001c0001t0005
a0001c0001t0006
a0001c0001t0032
others(17): Show 
a0001c0001t0005
a0001c0001t0006
a0001c0001t0032
a0001c0001t0035
a0001c0001t0044
a0001c0001t0045
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0062
a0001c0001t0092
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0010t0050
a0001c0010t0052
a0007c0007t0051
a0009c0009t0091
a0009c0009t0093
 51 HG00438.hp1
HG01192.hp1
HG01891.hp2
others(48): Show 
HG00438.hp1
HG01192.hp1
HG01891.hp2
HG02129.hp2
HG02258.hp2
HG02451.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03942.hp2
HG04115.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*3192G>A
c.*3192G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3192 chr6 52495533
chr6:52495587 T
T
 C
C
 6 a0001c0001t0032
a0001c0001t0035
a0001c0001t0049
others(3): Show 
a0001c0001t0032
a0001c0001t0035
a0001c0001t0049
a0001c0001t0054
a0001c0001t0057
a0001c0001t0062
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 3_prime_UTR_variant MODIFIER c.*3246T>C
c.*3246T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3246 chr6 52495587
chr6:52495747 T
T
 C
C
 50 a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
others(47): Show 
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0023
a0001c0001t0025
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0036
a0001c0001t0038
a0001c0001t0040
a0001c0001t0041
a0001c0001t0059
a0001c0001t0060
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0070
a0001c0001t0074
a0001c0001t0076
a0001c0001t0088
a0001c0011t0011
a0002c0002t0021
a0002c0002t0048
a0002c0002t0086
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
a0010c0012t0015
 91 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp1
NA18947.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18982.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3406T>C
c.*3406T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3406 chr6 52495747
chr6:52495878 A
A
 C
C
 1 a0002c0002t0079
a0002c0002t0079
 1 HG02280.hp2
HG02280.hp2
 3_prime_UTR_variant MODIFIER c.*3537A>C
c.*3537A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3537 chr6 52495878
chr6:52495932 G
G
 A
A
 9 a0001c0001t0027
a0001c0001t0037
a0002c0002t0024
others(6): Show 
a0001c0001t0027
a0001c0001t0037
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0037
a0002c0002t0058
a0002c0002t0068
a0002c0002t0071
 11 HG00735.hp1
HG01099.hp1
HG02109.hp1
others(8): Show 
HG00735.hp1
HG01099.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG03130.hp1
HG06807.hp2
 3_prime_UTR_variant MODIFIER c.*3591G>A
c.*3591G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3591 chr6 52495932
chr6:52495991 A
A
 C
C
 2 a0001c0001t0031
a0001c0001t0070
a0001c0001t0031
a0001c0001t0070
 3 HG03041.hp2
HG03471.hp1
NA19043.hp1
HG03041.hp2
HG03471.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*3650A>C
c.*3650A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3650 chr6 52495991
chr6:52496196 ACACACAC
others(5): Show 
ACACACACACACC
 A
A
 28 a0001c0001t0008
a0001c0001t0010
a0001c0001t0016
others(25): Show 
a0001c0001t0008
a0001c0001t0010
a0001c0001t0016
a0001c0001t0023
a0001c0001t0025
a0001c0001t0029
a0001c0001t0031
a0001c0001t0036
a0001c0001t0038
a0001c0001t0040
a0001c0001t0041
a0001c0001t0059
a0001c0001t0070
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0010c0012t0015
 41 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(38): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG04204.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*3867_*3878delCCAC
others(8): Show 
c.*3867_*3878delCCACACACACAC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3867 INFO_REALIGN_3_PRIME chr6 52496196
chr6:52496198 ACACACAC
others(3): Show 
ACACACACACC
 A
A
 1 a0004c0004t0061
a0004c0004t0061
 1 HG04184.hp2
HG04184.hp2
 3_prime_UTR_variant MODIFIER c.*3867_*3876delCCAC
others(6): Show 
c.*3867_*3876delCCACACACAC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3867 INFO_REALIGN_3_PRIME chr6 52496198
chr6:52496208 C
C
 CCA
CCA
 4 a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
others(1): Show 
a0006c0006t0017
a0006c0006t0056
a0006c0006t0072
a0006c0006t0073
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*3884_*3885dupCA
c.*3884_*3885dupCA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3886 INFO_REALIGN_3_PRIME chr6 52496208
chr6:52496208 CCACACAC
others(7): Show 
CCACACACACACACA
 C
C
 1 a0001c0001t0087
a0001c0001t0087
 1 HG01175.hp1
HG01175.hp1
 3_prime_UTR_variant MODIFIER c.*3872_*3885delCACA
others(10): Show 
c.*3872_*3885delCACACACACACACA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3872 INFO_REALIGN_3_PRIME chr6 52496208
chr6:52496227 A
A
 C
C
 8 a0002c0002t0034
a0002c0002t0053
a0002c0002t0055
others(5): Show 
a0002c0002t0034
a0002c0002t0053
a0002c0002t0055
a0002c0002t0064
a0002c0002t0067
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*3886A>C
c.*3886A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3886 chr6 52496227
chr6:52496229 G
G
 A
A
 20 a0001c0001t0027
a0001c0001t0037
a0002c0002t0024
others(17): Show 
a0001c0001t0027
a0001c0001t0037
a0002c0002t0024
a0002c0002t0027
a0002c0002t0033
a0002c0002t0034
a0002c0002t0037
a0002c0002t0043
a0002c0002t0053
a0002c0002t0055
a0002c0002t0058
a0002c0002t0063
a0002c0002t0064
a0002c0002t0067
a0002c0002t0068
a0002c0002t0071
a0002c0002t0078
a0002c0002t0079
a0002c0002t0080
a0002c0002t0090
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03579.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*3888G>A
c.*3888G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3888 chr6 52496229
chr6:52496265 T
T
 C
C
 2 a0002c0002t0021
a0002c0002t0048
a0002c0002t0021
a0002c0002t0048
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 3_prime_UTR_variant MODIFIER c.*3924T>C
c.*3924T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3924 chr6 52496265
chr6:52496276 G
G
 A
A
 1 a0007c0007t0051
a0007c0007t0051
 1 NA19043.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*3935G>A
c.*3935G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3935 chr6 52496276
chr6:52496319 G
G
 A
A
 1 a0001c0001t0082
a0001c0001t0082
 1 HG02886.hp1
HG02886.hp1
 3_prime_UTR_variant MODIFIER c.*3978G>A
c.*3978G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 3978 chr6 52496319
chr6:52496513 A
A
 C
C
 1 a0009c0009t0046
a0009c0009t0046
 1 HG03139.hp2
HG03139.hp2
 3_prime_UTR_variant MODIFIER c.*4172A>C
c.*4172A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4172 chr6 52496513
chr6:52496546 T
T
 G
G
 2 a0001c0001t0047
a0001c0001t0083
a0001c0001t0047
a0001c0001t0083
 2 HG01928.hp1
HG02896.hp1
HG01928.hp1
HG02896.hp1
 3_prime_UTR_variant MODIFIER c.*4205T>G
c.*4205T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4205 chr6 52496546
chr6:52496608 A
A
 G
G
 1 a0001c0001t0062
a0001c0001t0062
 1 HG00438.hp1
HG00438.hp1
 3_prime_UTR_variant MODIFIER c.*4267A>G
c.*4267A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4267 chr6 52496608
chr6:52496855 C
C
 T
T
 1 a0001c0001t0085
a0001c0001t0085
 1 HG01891.hp1
HG01891.hp1
 3_prime_UTR_variant MODIFIER c.*4514C>T
c.*4514C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4514 chr6 52496855
chr6:52497032 A
A
 G
G
 2 a0009c0009t0091
a0009c0009t0093
a0009c0009t0091
a0009c0009t0093
 2 HG02451.hp1
HG03516.hp1
HG02451.hp1
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*4691A>G
c.*4691A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4691 chr6 52497032
chr6:52497119 C
C
 G
G
 1 a0002c0002t0086
a0002c0002t0086
 1 HG06807.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*4778C>G
c.*4778C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4778 chr6 52497119
chr6:52497123 T
T
 C
C
 29 a0001c0001t0008
a0001c0001t0010
a0001c0001t0016
others(26): Show 
a0001c0001t0008
a0001c0001t0010
a0001c0001t0016
a0001c0001t0023
a0001c0001t0025
a0001c0001t0029
a0001c0001t0031
a0001c0001t0036
a0001c0001t0038
a0001c0001t0040
a0001c0001t0041
a0001c0001t0059
a0001c0001t0070
a0004c0004t0008
a0004c0004t0010
a0004c0004t0015
a0004c0004t0016
a0004c0004t0023
a0004c0004t0025
a0004c0004t0026
a0004c0004t0036
a0004c0004t0038
a0004c0004t0041
a0004c0004t0061
a0004c0004t0075
a0004c0004t0077
a0004c0004t0081
a0004c0004t0084
a0010c0012t0015
 42 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(39): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*4782T>C
c.*4782T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4782 chr6 52497123
chr6:52497135 C
C
 CTCT
CTCT
 17 a0001c0001t0001
a0001c0001t0005
a0001c0001t0006
others(14): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0006
a0001c0001t0022
a0001c0001t0039
a0001c0001t0044
a0001c0001t0045
a0001c0001t0087
a0001c0001t0094
a0001c0001t0096
a0001c0001t0097
a0001c0001t0099
a0001c0010t0001
a0003c0003t0022
a0005c0005t0001
a0007c0007t0001
a0012c0015t0001
 129 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(126): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18946.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18974.hp2
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19086.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*4796_*4798dupCTT
c.*4796_*4798dupCTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 11/11 4799 INFO_REALIGN_3_PRIME chr6 52497135

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
chr6:52420577 C
C
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.63+104C>T
c.63+104C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52420577
chr6:52420596 G
G
 C
C
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.63+123G>C
c.63+123G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52420596
chr6:52420667 C
C
 T
T
 6 a0001c0001t0005g0003
a0001c0001t0005g0302
a0001c0001t0005g0303
others(3): Show 
a0001c0001t0005g0003
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0096g0003
 10 NA18954.hp1
NA18955.hp2
NA18957.hp2
others(7): Show 
NA18954.hp1
NA18955.hp2
NA18957.hp2
NA18963.hp1
NA18964.hp2
NA18974.hp2
NA19001.hp1
NA19056.hp2
NA19058.hp2
NA19082.hp2
 intron_variant MODIFIER c.63+194C>T
c.63+194C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52420667
chr6:52420750 G
G
 A
A
 1 a0004c0004t0008g0066
a0004c0004t0008g0066
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.63+277G>A
c.63+277G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52420750
chr6:52420852 C
C
 G
G
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.63+379C>G
c.63+379C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52420852
chr6:52420972 T
T
 C
C
 1 a0001c0001t0006g0067
a0001c0001t0006g0067
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.63+499T>C
c.63+499T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52420972
chr6:52421034 A
A
 C
C
 4 a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
others(1): Show 
a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0012g0021
 4 HG01515.hp2
HG01517.hp2
NA20905.hp1
others(1): Show 
HG01515.hp2
HG01517.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.63+561A>C
c.63+561A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421034
chr6:52421159 C
C
 T
T
 40 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(37): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 48 HG00438.hp1
HG01192.hp1
HG02129.hp2
others(45): Show 
HG00438.hp1
HG01192.hp1
HG02129.hp2
HG02258.hp2
HG02451.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03239.hp1
HG03491.hp2
HG03516.hp1
HG03942.hp2
HG04115.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.63+686C>T
c.63+686C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421159
chr6:52421170 T
T
 C
C
 2 a0001c0001t0022g0068
a0001c0001t0085g0069
a0001c0001t0022g0068
a0001c0001t0085g0069
 2 HG01891.hp1
HG03139.hp1
HG01891.hp1
HG03139.hp1
 intron_variant MODIFIER c.63+697T>C
c.63+697T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421170
chr6:52421190 C
C
 T
T
 2 a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0011g0062
a0001c0001t0011g0063
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.63+717C>T
c.63+717C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421190
chr6:52421301 G
G
 A
A
 260 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(257): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 302 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(299): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18949.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.63+828G>A
c.63+828G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421301
chr6:52421441 T
T
 A
A
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0004c0004t0008g0070
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.63+968T>A
c.63+968T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421441
chr6:52421535 G
G
 A
A
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.63+1062G>A
c.63+1062G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421535
chr6:52421556 T
T
 C
C
 328 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(325): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 395 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(392): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.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
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.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.63+1083T>C
c.63+1083T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421556
chr6:52421824 A
A
 G
G
 2 a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0038g0221
a0001c0001t0041g0220
 2 HG02451.hp2
HG03225.hp2
HG02451.hp2
HG03225.hp2
 intron_variant MODIFIER c.63+1351A>G
c.63+1351A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421824
chr6:52421987 C
C
 T
T
 2 a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0004g0275
a0001c0001t0004g0276
 2 HG03540.hp2
NA18906.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.63+1514C>T
c.63+1514C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52421987
chr6:52422112 A
A
 T
T
 2 a0003c0003t0003g0218
a0003c0003t0022g0219
a0003c0003t0003g0218
a0003c0003t0022g0219
 2 HG02280.hp1
HG02622.hp1
HG02280.hp1
HG02622.hp1
 intron_variant MODIFIER c.63+1639A>T
c.63+1639A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52422112
chr6:52422135 C
C
 T
T
 4 a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0006g0294
others(1): Show 
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0006g0294
a0001c0001t0094g0295
 4 HG01192.hp1
HG02723.hp2
HG02965.hp2
others(1): Show 
HG01192.hp1
HG02723.hp2
HG02965.hp2
HG02976.hp1
 intron_variant MODIFIER c.63+1662C>T
c.63+1662C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52422135
chr6:52422397 G
G
 A
A
 45 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(42): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0087g0074
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0008c0008t0014g0012
a0008c0008t0014g0095
 56 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(53): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03654.hp2
HG03704.hp2
HG03710.hp1
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.64-1549G>A
c.64-1549G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52422397
chr6:52422398 C
C
 A
A
 45 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(42): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0087g0074
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0008c0008t0014g0012
a0008c0008t0014g0095
 56 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(53): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03654.hp2
HG03704.hp2
HG03710.hp1
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.64-1548C>A
c.64-1548C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52422398
chr6:52422651 A
A
 G
G
 1 a0001c0001t0083g0274
a0001c0001t0083g0274
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.64-1295A>G
c.64-1295A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52422651
chr6:52422926 G
G
 A
A
 1 a0001c0001t0001g0107
a0001c0001t0001g0107
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.64-1020G>A
c.64-1020G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52422926
chr6:52423156 G
G
 A
A
 1 a0003c0003t0003g0072
a0003c0003t0003g0072
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.64-790G>A
c.64-790G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423156
chr6:52423279 C
C
 T
T
 1 a0004c0004t0038g0217
a0004c0004t0038g0217
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.64-667C>T
c.64-667C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423279
chr6:52423393 A
A
 G
G
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.64-553A>G
c.64-553A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423393
chr6:52423438 C
C
 T
T
 2 a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0038g0221
a0001c0001t0041g0220
 2 HG02451.hp2
HG03225.hp2
HG02451.hp2
HG03225.hp2
 intron_variant MODIFIER c.64-508C>T
c.64-508C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423438
chr6:52423467 C
C
 T
T
 6 a0001c0001t0002g0033
a0001c0001t0002g0269
a0001c0001t0002g0270
others(3): Show 
a0001c0001t0002g0033
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
 7 HG02602.hp1
HG03017.hp1
HG03491.hp1
others(4): Show 
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04204.hp1
 intron_variant MODIFIER c.64-479C>T
c.64-479C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423467
chr6:52423489 T
T
 A
A
 1 a0001c0001t0002g0222
a0001c0001t0002g0222
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.64-457T>A
c.64-457T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423489
chr6:52423490 G
G
 A
A
 1 a0001c0001t0013g0038
a0001c0001t0013g0038
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.64-456G>A
c.64-456G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423490
chr6:52423657 A
A
 AT
AT
 39 a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0268
others(36): Show 
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0268
a0001c0001t0005g0003
a0001c0001t0005g0292
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0036
a0001c0001t0007g0061
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0044g0291
a0001c0001t0047g0267
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0069g0058
a0001c0001t0083g0274
a0001c0001t0096g0003
a0001c0010t0001g0206
a0003c0003t0003g0084
a0003c0003t0003g0085
a0005c0005t0001g0096
a0008c0008t0014g0012
a0008c0008t0014g0095
 51 HG00140.hp2
HG00438.hp1
HG00741.hp1
others(48): Show 
HG00140.hp2
HG00438.hp1
HG00741.hp1
HG01167.hp2
HG01243.hp1
HG01433.hp2
HG01884.hp2
HG01928.hp1
HG01952.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp1
HG02615.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03942.hp2
HG04115.hp2
NA18939.hp2
NA18940.hp2
NA18943.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18964.hp2
NA18972.hp1
NA18974.hp2
NA18993.hp2
NA19001.hp1
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19082.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.64-262dupT
c.64-262dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 INFO_REALIGN_3_PRIME chr6 52423657
chr6:52423657 A
A
 ATT
ATT
 18 a0001c0001t0019g0106
a0001c0010t0052g0207
a0003c0003t0003g0004
others(15): Show 
a0001c0001t0019g0106
a0001c0010t0052g0207
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
 24 HG00642.hp1
HG00733.hp1
HG01070.hp1
others(21): Show 
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01891.hp2
HG01934.hp2
HG02071.hp2
HG02132.hp2
HG02280.hp1
HG02486.hp1
HG02622.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19054.hp2
NA19079.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.64-263_64-262dupTT
c.64-263_64-262dupTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 INFO_REALIGN_3_PRIME chr6 52423657
chr6:52423657 AT
AT
 A
A
 129 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(126): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0107
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0002g0015
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0005g0293
a0001c0001t0006g0034
a0001c0001t0007g0040
a0001c0001t0007g0064
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0129
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0031g0134
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0044g0034
a0001c0001t0059g0131
a0001c0001t0065g0177
a0001c0001t0070g0135
a0001c0001t0085g0069
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0126
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 150 HG00099.hp1
HG00280.hp1
HG00408.hp1
others(147): Show 
HG00099.hp1
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00558.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01192.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01952.hp1
HG01993.hp1
HG02015.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02135.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp2
NA18992.hp1
NA18992.hp2
NA19003.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp2
NA19086.hp1
NA19087.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.64-262delT
c.64-262delT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 INFO_REALIGN_3_PRIME chr6 52423657
chr6:52423657 ATT
ATT
 A
A
 13 a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0010g0112
a0001c0001t0025g0110
a0001c0001t0029g0108
a0001c0001t0031g0111
a0002c0002t0034g0208
a0002c0002t0086g0071
a0002c0002t0090g0114
a0004c0004t0010g0113
a0004c0004t0015g0109
 13 HG00099.hp2
HG01071.hp2
HG01168.hp1
others(10): Show 
HG00099.hp2
HG01071.hp2
HG01168.hp1
HG01168.hp2
HG01496.hp2
HG01975.hp2
HG02896.hp2
HG02922.hp2
HG03041.hp2
HG06807.hp1
NA18982.hp1
NA19001.hp2
NA19076.hp1
 intron_variant MODIFIER c.64-263_64-262delTT
c.64-263_64-262delTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 INFO_REALIGN_3_PRIME chr6 52423657
chr6:52423787 C
C
 T
T
 1 a0001c0001t0036g0205
a0001c0001t0036g0205
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.64-159C>T
c.64-159C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423787
chr6:52423788 G
G
 C
C
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.64-158G>C
c.64-158G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423788
chr6:52423803 G
G
 A
A
 1 a0002c0002t0053g0209
a0002c0002t0053g0209
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.64-143G>A
c.64-143G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423803
chr6:52423912 A
A
 G
G
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.64-34A>G
c.64-34A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 1/10 chr6 52423912
chr6:52424247 C
C
 T
T
 4 a0001c0001t0002g0231
a0001c0001t0002g0264
a0001c0001t0002g0265
others(1): Show 
a0001c0001t0002g0231
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
 4 HG02155.hp1
HG04184.hp1
NA19003.hp2
others(1): Show 
HG02155.hp1
HG04184.hp1
NA19003.hp2
NA19080.hp1
 intron_variant MODIFIER c.285+80C>T
c.285+80C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52424247
chr6:52424316 A
A
 C
C
 1 a0004c0004t0016g0192
a0004c0004t0016g0192
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.285+149A>C
c.285+149A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52424316
chr6:52424411 A
A
 T
T
 29 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(26): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
 36 HG01192.hp1
HG02723.hp2
HG02735.hp1
others(33): Show 
HG01192.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.285+244A>T
c.285+244A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52424411
chr6:52424531 A
A
 G
G
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.285+364A>G
c.285+364A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52424531
chr6:52424805 G
G
 T
T
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.285+638G>T
c.285+638G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52424805
chr6:52424827 C
C
 A
A
 33 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(30): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 40 HG01192.hp1
HG02258.hp2
HG02451.hp1
others(37): Show 
HG01192.hp1
HG02258.hp2
HG02451.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03491.hp2
HG03516.hp1
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.285+660C>A
c.285+660C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52424827
chr6:52425012 C
C
 G
G
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.285+845C>G
c.285+845C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52425012
chr6:52425097 A
A
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.285+930A>T
c.285+930A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52425097
chr6:52425163 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+996C>T
c.285+996C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52425163
chr6:52425457 T
T
 C
C
 3 a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
 3 NA18939.hp1
NA18962.hp2
NA19086.hp1
NA18939.hp1
NA18962.hp2
NA19086.hp1
 intron_variant MODIFIER c.285+1290T>C
c.285+1290T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52425457
chr6:52425602 T
T
 C
C
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.285+1435T>C
c.285+1435T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52425602
chr6:52425961 T
T
 C
C
 274 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(271): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 320 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(317): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.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
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.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
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18949.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.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.285+1794T>C
c.285+1794T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52425961
chr6:52426129 T
T
 C
C
 87 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(84): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0085g0069
a0001c0001t0088g0056
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0010c0012t0015g0013
 91 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp1
NA18947.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18982.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp1
NA19089.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+1962T>C
c.285+1962T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426129
chr6:52426190 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+2023C>T
c.285+2023C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426190
chr6:52426214 C
C
 T
T
 4 a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
others(1): Show 
a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0012g0021
 4 HG01515.hp2
HG01517.hp2
NA20905.hp1
others(1): Show 
HG01515.hp2
HG01517.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+2047C>T
c.285+2047C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426214
chr6:52426315 A
A
 G
G
 1 a0001c0001t0007g0057
a0001c0001t0007g0057
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.285+2148A>G
c.285+2148A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426315
chr6:52426511 G
G
 A
A
 1 a0001c0001t0007g0041
a0001c0001t0007g0041
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.285+2344G>A
c.285+2344G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426511
chr6:52426650 T
T
 C
C
 1 a0004c0004t0041g0119
a0004c0004t0041g0119
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.285+2483T>C
c.285+2483T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426650
chr6:52426750 C
C
 G
G
 42 a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
others(39): Show 
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0059g0131
a0001c0001t0070g0135
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0010c0012t0015g0013
 42 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(39): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.285+2583C>G
c.285+2583C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426750
chr6:52426771 C
C
 A
A
 1 a0001c0001t0062g0298
a0001c0001t0062g0298
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.285+2604C>A
c.285+2604C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426771
chr6:52426884 C
C
 G
G
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.285+2717C>G
c.285+2717C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426884
chr6:52426916 T
T
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.285+2749T>A
c.285+2749T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52426916
chr6:52427071 T
T
 C
C
 2 a0003c0003t0003g0218
a0003c0003t0022g0219
a0003c0003t0003g0218
a0003c0003t0022g0219
 2 HG02280.hp1
HG02622.hp1
HG02280.hp1
HG02622.hp1
 intron_variant MODIFIER c.285+2904T>C
c.285+2904T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427071
chr6:52427170 C
C
 G
G
 105 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 135 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.285+3003C>G
c.285+3003C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427170
chr6:52427276 A
A
 G
G
 1 a0001c0001t0002g0263
a0001c0001t0002g0263
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.285+3109A>G
c.285+3109A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427276
chr6:52427298 C
C
 G
G
 1 a0004c0004t0010g0113
a0004c0004t0010g0113
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.285+3131C>G
c.285+3131C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427298
chr6:52427338 A
A
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+3171A>G
c.285+3171A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427338
chr6:52427409 G
G
 T
T
 1 a0001c0001t0032g0297
a0001c0001t0032g0297
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.285+3242G>T
c.285+3242G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427409
chr6:52427554 CT
CT
 C
C
 232 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(229): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0012c0015t0001g0028
 274 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(271): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18949.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+3399delT
c.285+3399delT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 INFO_REALIGN_3_PRIME chr6 52427554
chr6:52427554 CTT
CTT
 C
C
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+3398_285+3399d
others(4): Show 
c.285+3398_285+3399delTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 INFO_REALIGN_3_PRIME chr6 52427554
chr6:52427649 G
G
 A
A
 1 a0002c0002t0024g0142
a0002c0002t0024g0142
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.285+3482G>A
c.285+3482G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427649
chr6:52427661 T
T
 C
C
 2 a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0029g0108
a0001c0001t0029g0120
 2 HG01069.hp1
HG01071.hp2
HG01069.hp1
HG01071.hp2
 intron_variant MODIFIER c.285+3494T>C
c.285+3494T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427661
chr6:52427894 T
T
 C
C
 1 a0001c0001t0039g0198
a0001c0001t0039g0198
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.285+3727T>C
c.285+3727T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427894
chr6:52427925 TC
TC
 T
T
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.285+3760delC
c.285+3760delC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 INFO_REALIGN_3_PRIME chr6 52427925
chr6:52427926 C
C
 T
T
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.285+3759C>T
c.285+3759C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52427926
chr6:52428083 A
A
 G
G
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+3916A>G
c.285+3916A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52428083
chr6:52428168 G
G
 A
A
 1 a0001c0001t0074g0042
a0001c0001t0074g0042
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.285+4001G>A
c.285+4001G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52428168
chr6:52428214 C
C
 T
T
 2 a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0229
a0001c0001t0002g0230
 2 NA18971.hp1
NA19009.hp1
NA18971.hp1
NA19009.hp1
 intron_variant MODIFIER c.285+4047C>T
c.285+4047C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52428214
chr6:52428253 A
A
 G
G
 1 a0001c0001t0001g0107
a0001c0001t0001g0107
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.285+4086A>G
c.285+4086A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52428253
chr6:52428259 G
G
 C
C
 19 a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
others(16): Show 
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
 25 HG00642.hp1
HG00733.hp1
HG01070.hp1
others(22): Show 
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01934.hp2
HG02071.hp2
HG02132.hp2
HG02280.hp1
HG02622.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.285+4092G>C
c.285+4092G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52428259
chr6:52428445 G
G
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.285+4278G>C
c.285+4278G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52428445
chr6:52429015 C
C
 T
T
 1 a0004c0004t0026g0140
a0004c0004t0026g0140
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.285+4848C>T
c.285+4848C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429015
chr6:52429085 G
G
 A
A
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 2 NA18952.hp1
NA19054.hp1
NA18952.hp1
NA19054.hp1
 intron_variant MODIFIER c.285+4918G>A
c.285+4918G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429085
chr6:52429174 C
C
 T
T
 68 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(65): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 93 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(90): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.285+5007C>T
c.285+5007C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429174
chr6:52429224 T
T
 C
C
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.285+5057T>C
c.285+5057T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429224
chr6:52429434 A
A
 G
G
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.285+5267A>G
c.285+5267A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429434
chr6:52429591 T
T
 C
C
 1 a0001c0001t0007g0057
a0001c0001t0007g0057
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.285+5424T>C
c.285+5424T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429591
chr6:52429613 A
A
 C
C
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.285+5446A>C
c.285+5446A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429613
chr6:52429731 A
A
 G
G
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.285+5564A>G
c.285+5564A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429731
chr6:52429815 C
C
 T
T
 132 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0011c0013t0004g0143
a0012c0015t0001g0028
 162 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(159): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+5648C>T
c.285+5648C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429815
chr6:52429826 T
T
 C
C
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.285+5659T>C
c.285+5659T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52429826
chr6:52430218 C
C
 G
G
 7 a0005c0005t0001g0022
a0005c0005t0001g0079
a0005c0005t0001g0080
others(4): Show 
a0005c0005t0001g0022
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
 8 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(5): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02145.hp1
 intron_variant MODIFIER c.285+6051C>G
c.285+6051C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52430218
chr6:52430248 T
T
 G
G
 68 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(65): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 93 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(90): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.285+6081T>G
c.285+6081T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52430248
chr6:52430319 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+6152C>T
c.285+6152C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52430319
chr6:52430354 G
G
 C
C
 1 a0001c0001t0001g0155
a0001c0001t0001g0155
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.285+6187G>C
c.285+6187G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52430354
chr6:52430567 C
C
 T
T
 2 a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0023
a0003c0003t0003g0024
 4 HG01070.hp1
HG01071.hp1
NA20752.hp1
others(1): Show 
HG01070.hp1
HG01071.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.285+6400C>T
c.285+6400C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52430567
chr6:52430669 A
A
 C
C
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.285+6502A>C
c.285+6502A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52430669
chr6:52430792 T
T
 C
C
 314 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(311): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 381 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(378): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.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
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+6625T>C
c.285+6625T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52430792
chr6:52431158 C
C
 T
T
 1 a0009c0009t0046g0281
a0009c0009t0046g0281
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.285+6991C>T
c.285+6991C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431158
chr6:52431397 G
G
 T
T
 2 a0004c0004t0008g0066
a0004c0004t0084g0137
a0004c0004t0008g0066
a0004c0004t0084g0137
 2 HG02135.hp1
NA18987.hp2
HG02135.hp1
NA18987.hp2
 intron_variant MODIFIER c.286-6907G>T
c.286-6907G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431397
chr6:52431419 C
C
 T
T
 68 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(65): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 93 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(90): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-6885C>T
c.286-6885C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431419
chr6:52431494 A
A
 G
G
 1 a0001c0001t0016g0139
a0001c0001t0016g0139
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.286-6810A>G
c.286-6810A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431494
chr6:52431533 C
C
 T
T
 2 a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0091g0280
a0009c0009t0093g0278
 2 HG02451.hp1
HG03516.hp1
HG02451.hp1
HG03516.hp1
 intron_variant MODIFIER c.286-6771C>T
c.286-6771C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431533
chr6:52431648 A
A
 G
G
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-6656A>G
c.286-6656A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431648
chr6:52431648 A
A
 T
T
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.286-6656A>T
c.286-6656A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431648
chr6:52431663 G
G
 C
C
 87 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(84): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0085g0069
a0001c0001t0088g0056
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0010c0012t0015g0013
 91 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp1
NA18947.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18982.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp1
NA19089.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-6641G>C
c.286-6641G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431663
chr6:52431678 G
G
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.286-6626G>T
c.286-6626G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431678
chr6:52431739 A
A
 G
G
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.286-6565A>G
c.286-6565A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431739
chr6:52431785 A
A
 G
G
 109 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(106): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0014t0002g0241
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 142 HG00099.hp1
HG00438.hp1
HG00438.hp2
others(139): Show 
HG00099.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp2
NA18977.hp1
NA18981.hp1
NA18993.hp1
NA19000.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-6519A>G
c.286-6519A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431785
chr6:52431955 C
C
 T
T
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.286-6349C>T
c.286-6349C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52431955
chr6:52432129 G
G
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.286-6175G>A
c.286-6175G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52432129
chr6:52433008 A
A
 G
G
 1 a0001c0001t0001g0189
a0001c0001t0001g0189
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.286-5296A>G
c.286-5296A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433008
chr6:52433147 G
G
 C
C
 2 a0001c0001t0005g0283
a0001c0001t0006g0284
a0001c0001t0005g0283
a0001c0001t0006g0284
 2 NA19064.hp2
NA19078.hp1
NA19064.hp2
NA19078.hp1
 intron_variant MODIFIER c.286-5157G>C
c.286-5157G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433147
chr6:52433171 A
A
 G
G
 4 a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
others(1): Show 
a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0012g0021
 4 HG01515.hp2
HG01517.hp2
NA20905.hp1
others(1): Show 
HG01515.hp2
HG01517.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-5133A>G
c.286-5133A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433171
chr6:52433258 G
G
 C
C
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-5046G>C
c.286-5046G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433258
chr6:52433285 T
T
 A
A
 3 a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 3 HG01069.hp2
HG02280.hp2
NA21309.hp2
HG01069.hp2
HG02280.hp2
NA21309.hp2
 intron_variant MODIFIER c.286-5019T>A
c.286-5019T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433285
chr6:52433376 A
A
 G
G
 1 a0001c0001t0001g0188
a0001c0001t0001g0188
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.286-4928A>G
c.286-4928A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433376
chr6:52433595 G
G
 A
A
 1 a0001c0001t0013g0043
a0001c0001t0013g0043
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.286-4709G>A
c.286-4709G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433595
chr6:52433703 G
G
 A
A
 1 a0006c0006t0072g0194
a0006c0006t0072g0194
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.286-4601G>A
c.286-4601G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52433703
chr6:52434016 C
C
 T
T
 106 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(103): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0262
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 136 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(133): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.286-4288C>T
c.286-4288C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434016
chr6:52434414 G
G
 C
C
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-3890G>C
c.286-3890G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434414
chr6:52434464 G
G
 T
T
 109 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(106): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0014t0002g0241
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 142 HG00099.hp1
HG00438.hp1
HG00438.hp2
others(139): Show 
HG00099.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp2
NA18977.hp1
NA18981.hp1
NA18993.hp1
NA19000.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-3840G>T
c.286-3840G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434464
chr6:52434479 G
G
 A
A
 34 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(31): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 41 HG01192.hp1
HG02258.hp2
HG02451.hp1
others(38): Show 
HG01192.hp1
HG02258.hp2
HG02451.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.286-3825G>A
c.286-3825G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434479
chr6:52434567 C
C
 T
T
 1 a0001c0001t0088g0056
a0001c0001t0088g0056
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.286-3737C>T
c.286-3737C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434567
chr6:52434736 A
A
 G
G
 2 a0001c0001t0092g0279
a0001c0001t0095g0197
a0001c0001t0092g0279
a0001c0001t0095g0197
 2 HG02258.hp2
HG03516.hp2
HG02258.hp2
HG03516.hp2
 intron_variant MODIFIER c.286-3568A>G
c.286-3568A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434736
chr6:52434771 C
C
 G
G
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.286-3533C>G
c.286-3533C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434771
chr6:52434865 C
C
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.286-3439C>T
c.286-3439C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52434865
chr6:52434884 C
C
 CAT
CAT
 46 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
others(43): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0082g0234
a0001c0001t0083g0274
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0136
 58 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(55): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01255.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp2
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03927.hp2
NA18906.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.286-3402_286-3401d
others(4): Show 
c.286-3402_286-3401dupTA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 INFO_REALIGN_3_PRIME chr6 52434884
chr6:52434884 C
C
 CATAT
CATAT
 58 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(55): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0065g0177
a0001c0001t0099g0183
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0012c0015t0001g0028
 79 HG00408.hp2
HG00558.hp1
HG00735.hp2
others(76): Show 
HG00408.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG03017.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-3404_286-3401d
others(6): Show 
c.286-3404_286-3401dupTATA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 INFO_REALIGN_3_PRIME chr6 52434884
chr6:52434884 C
C
 CATATAT
CATATAT
 8 a0001c0001t0001g0118
a0001c0001t0020g0094
a0001c0001t0039g0187
others(5): Show 
a0001c0001t0001g0118
a0001c0001t0020g0094
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0008c0008t0014g0095
 8 HG01106.hp2
HG01891.hp2
HG02615.hp1
others(5): Show 
HG01106.hp2
HG01891.hp2
HG02615.hp1
HG02717.hp1
HG02895.hp2
HG03831.hp2
NA19001.hp2
NA19240.hp2
 intron_variant MODIFIER c.286-3406_286-3401d
others(8): Show 
c.286-3406_286-3401dupTATATA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 INFO_REALIGN_3_PRIME chr6 52434884
chr6:52435002 A
A
 G
G
 1 a0001c0001t0038g0221
a0001c0001t0038g0221
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.286-3302A>G
c.286-3302A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52435002
chr6:52435186 A
A
 G
G
 291 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(288): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 358 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(355): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-3118A>G
c.286-3118A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52435186
chr6:52435309 A
A
 G
G
 2 a0001c0001t0009g0093
a0001c0001t0019g0106
a0001c0001t0009g0093
a0001c0001t0019g0106
 2 HG02486.hp1
HG02818.hp2
HG02486.hp1
HG02818.hp2
 intron_variant MODIFIER c.286-2995A>G
c.286-2995A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52435309
chr6:52435524 A
A
 G
G
 1 a0001c0001t0002g0231
a0001c0001t0002g0231
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.286-2780A>G
c.286-2780A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52435524
chr6:52435624 A
A
 G
G
 1 a0001c0001t0022g0068
a0001c0001t0022g0068
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.286-2680A>G
c.286-2680A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52435624
chr6:52435794 C
C
 G
G
 20 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(17): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
 20 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(17): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-2510C>G
c.286-2510C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52435794
chr6:52435987 T
T
 C
C
 1 a0001c0001t0005g0283
a0001c0001t0005g0283
 1 NA19078.hp1
NA19078.hp1
 intron_variant MODIFIER c.286-2317T>C
c.286-2317T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52435987
chr6:52436005 C
C
 T
T
 1 a0001c0001t0007g0061
a0001c0001t0007g0061
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.286-2299C>T
c.286-2299C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436005
chr6:52436092 T
T
 A
A
 2 a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0156
a0001c0001t0001g0157
 2 HG01074.hp1
NA20805.hp1
HG01074.hp1
NA20805.hp1
 intron_variant MODIFIER c.286-2212T>A
c.286-2212T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436092
chr6:52436168 A
A
 G
G
 1 a0001c0010t0050g0204
a0001c0010t0050g0204
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.286-2136A>G
c.286-2136A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436168
chr6:52436305 C
C
 A
A
 2 a0001c0001t0002g0239
a0001c0001t0089g0240
a0001c0001t0002g0239
a0001c0001t0089g0240
 2 HG00544.hp2
NA19057.hp1
HG00544.hp2
NA19057.hp1
 intron_variant MODIFIER c.286-1999C>A
c.286-1999C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436305
chr6:52436530 T
T
 C
C
 1 a0001c0001t0007g0057
a0001c0001t0007g0057
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.286-1774T>C
c.286-1774T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436530
chr6:52436678 G
G
 A
A
 20 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(17): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
 20 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(17): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-1626G>A
c.286-1626G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436678
chr6:52436753 T
T
 C
C
 12 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(9): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
 14 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(11): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
NA19240.hp2
 intron_variant MODIFIER c.286-1551T>C
c.286-1551T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436753
chr6:52436979 T
T
 A
A
 1 a0001c0001t0006g0036
a0001c0001t0006g0036
 2 NA18956.hp1
NA19011.hp1
NA18956.hp1
NA19011.hp1
 intron_variant MODIFIER c.286-1325T>A
c.286-1325T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436979
chr6:52436987 T
T
 C
C
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-1317T>C
c.286-1317T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52436987
chr6:52437047 A
A
 G
G
 2 a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0038g0221
a0001c0001t0041g0220
 2 HG02451.hp2
HG03225.hp2
HG02451.hp2
HG03225.hp2
 intron_variant MODIFIER c.286-1257A>G
c.286-1257A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437047
chr6:52437079 C
C
 T
T
 1 a0001c0001t0016g0138
a0001c0001t0016g0138
 1 HG01258.hp2
HG01258.hp2
 intron_variant MODIFIER c.286-1225C>T
c.286-1225C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437079
chr6:52437244 C
C
 G
G
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-1060C>G
c.286-1060C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437244
chr6:52437256 G
G
 A
A
 2 a0001c0001t0022g0068
a0001c0001t0085g0069
a0001c0001t0022g0068
a0001c0001t0085g0069
 2 HG01891.hp1
HG03139.hp1
HG01891.hp1
HG03139.hp1
 intron_variant MODIFIER c.286-1048G>A
c.286-1048G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437256
chr6:52437632 T
T
 C
C
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.286-672T>C
c.286-672T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437632
chr6:52437647 T
T
 C
C
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.286-657T>C
c.286-657T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437647
chr6:52437689 G
G
 A
A
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.286-615G>A
c.286-615G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437689
chr6:52437744 C
C
 G
G
 3 a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 3 HG02451.hp1
HG03139.hp2
HG03516.hp1
HG02451.hp1
HG03139.hp2
HG03516.hp1
 intron_variant MODIFIER c.286-560C>G
c.286-560C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437744
chr6:52437782 A
A
 G
G
 1 a0001c0001t0001g0186
a0001c0001t0001g0186
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.286-522A>G
c.286-522A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437782
chr6:52437837 T
T
 C
C
 1 a0001c0001t0076g0044
a0001c0001t0076g0044
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.286-467T>C
c.286-467T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437837
chr6:52437884 G
G
 A
A
 2 a0001c0001t0013g0038
a0001c0001t0013g0045
a0001c0001t0013g0038
a0001c0001t0013g0045
 2 HG01109.hp2
HG01358.hp1
HG01109.hp2
HG01358.hp1
 intron_variant MODIFIER c.286-420G>A
c.286-420G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437884
chr6:52437933 C
C
 G
G
 2 a0001c0001t0001g0118
a0001c0001t0001g0202
a0001c0001t0001g0118
a0001c0001t0001g0202
 2 NA19001.hp2
NA19074.hp1
NA19001.hp2
NA19074.hp1
 intron_variant MODIFIER c.286-371C>G
c.286-371C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437933
chr6:52437968 C
C
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.286-336C>T
c.286-336C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437968
chr6:52437996 A
A
 G
G
 1 a0006c0006t0056g0196
a0006c0006t0056g0196
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.286-308A>G
c.286-308A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52437996
chr6:52438044 T
T
 A
A
 6 a0001c0001t0002g0269
a0007c0007t0001g0159
a0007c0007t0001g0160
others(3): Show 
a0001c0001t0002g0269
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
 6 HG01884.hp1
HG02572.hp1
HG02717.hp2
others(3): Show 
HG01884.hp1
HG02572.hp1
HG02717.hp2
HG03579.hp2
HG03688.hp2
NA19043.hp2
 intron_variant MODIFIER c.286-260T>A
c.286-260T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52438044
chr6:52438048 A
A
 G
G
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.286-256A>G
c.286-256A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52438048
chr6:52438080 C
C
 T
T
 5 a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
others(2): Show 
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
 5 HG00642.hp2
HG01081.hp2
HG01257.hp1
others(2): Show 
HG00642.hp2
HG01081.hp2
HG01257.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.286-224C>T
c.286-224C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52438080
chr6:52438124 T
T
 A
A
 105 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 135 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.286-180T>A
c.286-180T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52438124
chr6:52438153 T
T
 G
G
 1 a0004c0004t0075g0121
a0004c0004t0075g0121
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.286-151T>G
c.286-151T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52438153
chr6:52438250 G
G
 T
T
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-54G>T
c.286-54G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52438250
chr6:52438271 G
G
 A
A
 1 a0001c0001t0002g0263
a0001c0001t0002g0263
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.286-33G>A
c.286-33G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 2/10 chr6 52438271
chr6:52438601 A
A
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.573+10A>G
c.573+10A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52438601
chr6:52438864 A
A
 C
C
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.573+273A>C
c.573+273A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52438864
chr6:52438978 G
G
 T
T
 1 a0001c0001t0004g0224
a0001c0001t0004g0224
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.573+387G>T
c.573+387G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52438978
chr6:52439192 G
G
 A
A
 244 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(241): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0087g0074
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 307 HG00099.hp1
HG00140.hp1
HG00408.hp2
others(304): Show 
HG00099.hp1
HG00140.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+601G>A
c.573+601G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439192
chr6:52439311 A
A
 G
G
 1 a0004c0004t0081g0133
a0004c0004t0081g0133
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.573+720A>G
c.573+720A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439311
chr6:52439321 G
G
 A
A
 1 a0001c0001t0023g0122
a0001c0001t0023g0122
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.573+730G>A
c.573+730G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439321
chr6:52439435 C
C
 G
G
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.573+844C>G
c.573+844C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439435
chr6:52439615 G
G
 A
A
 2 a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0159
a0007c0007t0001g0160
 2 HG01884.hp1
HG02572.hp1
HG01884.hp1
HG02572.hp1
 intron_variant MODIFIER c.573+1024G>A
c.573+1024G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439615
chr6:52439671 G
G
 C
C
 5 a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
others(2): Show 
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
 5 HG00642.hp2
HG01081.hp2
HG01257.hp1
others(2): Show 
HG00642.hp2
HG01081.hp2
HG01257.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.573+1080G>C
c.573+1080G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439671
chr6:52439909 G
G
 A
A
 1 a0001c0001t0001g0164
a0001c0001t0001g0164
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.573+1318G>A
c.573+1318G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439909
chr6:52439915 A
A
 G
G
 2 a0001c0001t0005g0035
a0001c0001t0006g0035
a0001c0001t0005g0035
a0001c0001t0006g0035
 2 NA18960.hp1
NA19091.hp2
NA18960.hp1
NA19091.hp2
 intron_variant MODIFIER c.573+1324A>G
c.573+1324A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52439915
chr6:52440201 C
C
 CAACTATG
others(34): Show 
CAACTATGTCAATACATAATACTATGTCAATACATTTTGTCA
 1 a0001c0014t0002g0241
a0001c0014t0002g0241
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.573+1614_573+1615i
others(43): Show 
c.573+1614_573+1615insATGTCAATACATAATACTATGTCAATAC
ATTTTGTCAAACT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52440201
chr6:52440206 G
G
 T
T
 1 a0001c0014t0002g0241
a0001c0014t0002g0241
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.573+1615G>T
c.573+1615G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52440206
chr6:52440369 C
C
 G
G
 1 a0001c0001t0002g0261
a0001c0001t0002g0261
 1 NA19055.hp1
NA19055.hp1
 intron_variant MODIFIER c.573+1778C>G
c.573+1778C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52440369
chr6:52440580 G
G
 A
A
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.573+1989G>A
c.573+1989G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52440580
chr6:52440743 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.573+2152C>T
c.573+2152C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52440743
chr6:52440974 A
A
 G
G
 3 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.573+2383A>G
c.573+2383A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52440974
chr6:52440983 C
C
 G
G
 3 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.573+2392C>G
c.573+2392C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52440983
chr6:52440987 GC
GC
 G
G
 3 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.573+2397delC
c.573+2397delC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52440987
chr6:52441084 A
A
 T
T
 291 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(288): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 358 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(355): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.573+2493A>T
c.573+2493A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441084
chr6:52441299 G
G
 A
A
 3 a0001c0001t0012g0019
a0001c0001t0012g0046
a0001c0011t0011g0019
a0001c0001t0012g0019
a0001c0001t0012g0046
a0001c0011t0011g0019
 3 HG03688.hp1
HG03927.hp1
HG03942.hp1
HG03688.hp1
HG03927.hp1
HG03942.hp1
 intron_variant MODIFIER c.573+2708G>A
c.573+2708G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441299
chr6:52441389 T
T
 C
C
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+2798T>C
c.573+2798T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441389
chr6:52441394 T
T
 C
C
 1 a0004c0004t0077g0123
a0004c0004t0077g0123
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.573+2803T>C
c.573+2803T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441394
chr6:52441612 A
A
 T
T
 1 a0002c0002t0079g0212
a0002c0002t0079g0212
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.573+3021A>T
c.573+3021A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441612
chr6:52441631 G
G
 A
A
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.573+3040G>A
c.573+3040G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441631
chr6:52441648 CA
CA
 C
C
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.573+3059delA
c.573+3059delA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52441648
chr6:52441677 A
A
 G
G
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.573+3086A>G
c.573+3086A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441677
chr6:52441764 C
C
 G
G
 3 a0001c0001t0007g0040
a0001c0001t0013g0054
a0001c0001t0060g0055
a0001c0001t0007g0040
a0001c0001t0013g0054
a0001c0001t0060g0055
 3 NA18947.hp1
NA18992.hp2
NA19085.hp2
NA18947.hp1
NA18992.hp2
NA19085.hp2
 intron_variant MODIFIER c.573+3173C>G
c.573+3173C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441764
chr6:52441823 G
G
 T
T
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.573+3232G>T
c.573+3232G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441823
chr6:52441872 G
G
 A
A
 24 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(21): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+3281G>A
c.573+3281G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441872
chr6:52441938 G
G
 A
A
 1 a0001c0001t0002g0242
a0001c0001t0002g0242
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.573+3347G>A
c.573+3347G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52441938
chr6:52442049 G
G
 T
T
 1 a0001c0001t0039g0198
a0001c0001t0039g0198
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.573+3458G>T
c.573+3458G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442049
chr6:52442381 T
T
 C
C
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.573+3790T>C
c.573+3790T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442381
chr6:52442401 T
T
 C
C
 132 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0011c0013t0004g0143
a0012c0015t0001g0028
 162 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(159): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+3810T>C
c.573+3810T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442401
chr6:52442402 T
T
 C
C
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3811T>C
c.573+3811T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442402
chr6:52442410 C
C
 T
T
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3819C>T
c.573+3819C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442410
chr6:52442429 G
G
 A
A
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3838G>A
c.573+3838G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442429
chr6:52442432 G
G
 C
C
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3841G>C
c.573+3841G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442432
chr6:52442444 A
A
 C
C
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3853A>C
c.573+3853A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442444
chr6:52442446 A
A
 T
T
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3855A>T
c.573+3855A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442446
chr6:52442452 C
C
 T
T
 2 a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0038g0221
a0001c0001t0041g0220
 2 HG02451.hp2
HG03225.hp2
HG02451.hp2
HG03225.hp2
 intron_variant MODIFIER c.573+3861C>T
c.573+3861C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442452
chr6:52442457 T
T
 C
C
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3866T>C
c.573+3866T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442457
chr6:52442459 T
T
 C
C
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3868T>C
c.573+3868T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442459
chr6:52442470 A
A
 G
G
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3879A>G
c.573+3879A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442470
chr6:52442473 A
A
 G
G
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.573+3882A>G
c.573+3882A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442473
chr6:52442727 G
G
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.573+4136G>A
c.573+4136G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442727
chr6:52442888 T
T
 C
C
 1 a0003c0003t0003g0097
a0003c0003t0003g0097
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.573+4297T>C
c.573+4297T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442888
chr6:52442903 T
T
 G
G
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.573+4312T>G
c.573+4312T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442903
chr6:52442954 C
C
 T
T
 2 a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0091g0280
a0009c0009t0093g0278
 2 HG02451.hp1
HG03516.hp1
HG02451.hp1
HG03516.hp1
 intron_variant MODIFIER c.573+4363C>T
c.573+4363C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52442954
chr6:52443058 C
C
 T
T
 1 a0001c0001t0002g0266
a0001c0001t0002g0266
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.573+4467C>T
c.573+4467C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443058
chr6:52443085 C
C
 A
A
 68 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(65): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 93 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(90): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.573+4494C>A
c.573+4494C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443085
chr6:52443113 C
C
 T
T
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.573+4522C>T
c.573+4522C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443113
chr6:52443200 T
T
 C
C
 3 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.573+4609T>C
c.573+4609T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443200
chr6:52443383 A
A
 G
G
 1 a0003c0003t0003g0105
a0003c0003t0003g0105
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.573+4792A>G
c.573+4792A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443383
chr6:52443384 T
T
 A
A
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+4793T>A
c.573+4793T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443384
chr6:52443386 A
A
 G
G
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+4795A>G
c.573+4795A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443386
chr6:52443617 C
C
 T
T
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.573+5026C>T
c.573+5026C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443617
chr6:52443659 G
G
 A
A
 314 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(311): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 381 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(378): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.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.573+5068G>A
c.573+5068G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443659
chr6:52443687 G
G
 C
C
 2 a0001c0001t0002g0029
a0001c0001t0002g0031
a0001c0001t0002g0029
a0001c0001t0002g0031
 4 HG02129.hp1
HG02135.hp2
NA18943.hp1
others(1): Show 
HG02129.hp1
HG02135.hp2
NA18943.hp1
NA18954.hp2
 intron_variant MODIFIER c.573+5096G>C
c.573+5096G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443687
chr6:52443738 T
T
 C
C
 1 a0001c0001t0002g0269
a0001c0001t0002g0269
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.573+5147T>C
c.573+5147T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52443738
chr6:52444126 G
G
 A
A
 1 a0001c0001t0004g0224
a0001c0001t0004g0224
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.573+5535G>A
c.573+5535G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444126
chr6:52444377 G
G
 A
A
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.573+5786G>A
c.573+5786G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444377
chr6:52444457 T
T
 C
C
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.573+5866T>C
c.573+5866T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444457
chr6:52444641 A
A
 G
G
 105 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 135 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.573+6050A>G
c.573+6050A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444641
chr6:52444648 C
C
 T
T
 12 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(9): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0087g0074
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
 13 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(10): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02145.hp1
HG02735.hp2
HG03654.hp2
HG03710.hp1
 intron_variant MODIFIER c.573+6057C>T
c.573+6057C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444648
chr6:52444713 G
G
 T
T
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.573+6122G>T
c.573+6122G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444713
chr6:52444721 G
G
 T
T
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.573+6130G>T
c.573+6130G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444721
chr6:52444815 G
G
 A
A
 3 a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
 3 HG02257.hp1
HG02922.hp1
NA19240.hp2
HG02257.hp1
HG02922.hp1
NA19240.hp2
 intron_variant MODIFIER c.573+6224G>A
c.573+6224G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444815
chr6:52444872 T
T
 C
C
 1 a0001c0001t0006g0285
a0001c0001t0006g0285
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.573+6281T>C
c.573+6281T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444872
chr6:52444897 C
C
 T
T
 3 a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 3 HG02451.hp1
HG03139.hp2
HG03516.hp1
HG02451.hp1
HG03139.hp2
HG03516.hp1
 intron_variant MODIFIER c.573+6306C>T
c.573+6306C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52444897
chr6:52445065 G
G
 GT
GT
 29 a0001c0001t0001g0028
a0001c0001t0001g0164
a0001c0001t0027g0092
others(26): Show 
a0001c0001t0001g0028
a0001c0001t0001g0164
a0001c0001t0027g0092
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0105
a0011c0013t0004g0143
a0012c0015t0001g0028
 29 HG00733.hp1
HG00735.hp1
HG01069.hp2
others(26): Show 
HG00733.hp1
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA19030.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+6488dupT
c.573+6488dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52445065
chr6:52445089 G
G
 A
A
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.573+6498G>A
c.573+6498G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445089
chr6:52445218 A
A
 G
G
 1 a0001c0001t0004g0238
a0001c0001t0004g0238
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.573+6627A>G
c.573+6627A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445218
chr6:52445249 C
C
 T
T
 1 a0001c0001t0002g0260
a0001c0001t0002g0260
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.573+6658C>T
c.573+6658C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445249
chr6:52445264 A
A
 AT
AT
 7 a0001c0001t0001g0185
a0001c0001t0002g0033
a0001c0001t0002g0273
others(4): Show 
a0001c0001t0001g0185
a0001c0001t0002g0033
a0001c0001t0002g0273
a0004c0004t0008g0070
a0004c0004t0025g0025
a0004c0004t0036g0128
a0004c0004t0061g0025
 8 HG02602.hp1
HG03017.hp1
HG03669.hp1
others(5): Show 
HG02602.hp1
HG03017.hp1
HG03669.hp1
HG03710.hp2
HG04184.hp2
HG04228.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.573+6684dupT
c.573+6684dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52445264
chr6:52445296 T
T
 A
A
 244 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(241): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0010g0129
a0001c0001t0016g0139
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0087g0074
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 307 HG00099.hp1
HG00140.hp1
HG00408.hp2
others(304): Show 
HG00099.hp1
HG00140.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.573+6705T>A
c.573+6705T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445296
chr6:52445300 T
T
 A
A
 2 a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0027g0092
a0001c0001t0037g0088
 2 HG02109.hp1
HG02145.hp2
HG02109.hp1
HG02145.hp2
 intron_variant MODIFIER c.573+6709T>A
c.573+6709T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445300
chr6:52445301 AT
AT
 A
A
 4 a0001c0001t0002g0016
a0001c0001t0002g0243
a0001c0001t0002g0244
others(1): Show 
a0001c0001t0002g0016
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
 6 HG00558.hp2
HG02040.hp1
HG02071.hp1
others(3): Show 
HG00558.hp2
HG02040.hp1
HG02071.hp1
NA18952.hp2
NA19081.hp1
NA19086.hp2
 intron_variant MODIFIER c.573+6717delT
c.573+6717delT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52445301
chr6:52445372 A
A
 G
G
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.573+6781A>G
c.573+6781A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445372
chr6:52445408 C
C
 T
T
 4 a0001c0001t0002g0029
a0001c0001t0002g0031
a0001c0001t0002g0257
others(1): Show 
a0001c0001t0002g0029
a0001c0001t0002g0031
a0001c0001t0002g0257
a0001c0001t0002g0258
 6 HG02129.hp1
HG02135.hp2
NA18941.hp2
others(3): Show 
HG02129.hp1
HG02135.hp2
NA18941.hp2
NA18943.hp1
NA18954.hp2
NA18957.hp1
 intron_variant MODIFIER c.573+6817C>T
c.573+6817C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445408
chr6:52445409 G
G
 A
A
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.573+6818G>A
c.573+6818G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445409
chr6:52445429 C
C
 T
T
 1 a0001c0001t0012g0046
a0001c0001t0012g0046
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.573+6838C>T
c.573+6838C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445429
chr6:52445433 A
A
 G
G
 5 a0001c0001t0007g0053
a0001c0001t0007g0061
a0001c0001t0012g0059
others(2): Show 
a0001c0001t0007g0053
a0001c0001t0007g0061
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0052
 5 HG00140.hp2
HG00280.hp2
HG01433.hp2
others(2): Show 
HG00140.hp2
HG00280.hp2
HG01433.hp2
HG01516.hp1
NA20752.hp2
 intron_variant MODIFIER c.573+6842A>G
c.573+6842A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445433
chr6:52445438 G
G
 A
A
 286 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(283): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 353 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(350): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.573+6847G>A
c.573+6847G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445438
chr6:52445442 C
C
 T
T
 14 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
others(11): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
 18 HG01074.hp2
HG01123.hp1
HG01255.hp1
others(15): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG01928.hp1
HG02055.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03540.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.573+6851C>T
c.573+6851C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445442
chr6:52445452 C
C
 T
T
 1 a0004c0004t0010g0113
a0004c0004t0010g0113
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.573+6861C>T
c.573+6861C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445452
chr6:52445543 T
T
 C
C
 1 a0004c0004t0036g0128
a0004c0004t0036g0128
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.573+6952T>C
c.573+6952T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445543
chr6:52445666 A
A
 G
G
 2 a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0091g0280
a0009c0009t0093g0278
 2 HG02451.hp1
HG03516.hp1
HG02451.hp1
HG03516.hp1
 intron_variant MODIFIER c.574-7022A>G
c.574-7022A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445666
chr6:52445674 C
C
 T
T
 68 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(65): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 93 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(90): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.574-7014C>T
c.574-7014C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445674
chr6:52445734 T
T
 C
C
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.574-6954T>C
c.574-6954T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445734
chr6:52445859 G
G
 C
C
 19 a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
others(16): Show 
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
 25 HG00642.hp1
HG00733.hp1
HG01070.hp1
others(22): Show 
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01934.hp2
HG02071.hp2
HG02132.hp2
HG02280.hp1
HG02622.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.574-6829G>C
c.574-6829G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445859
chr6:52445915 G
G
 A
A
 1 a0001c0001t0002g0243
a0001c0001t0002g0243
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.574-6773G>A
c.574-6773G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445915
chr6:52445982 A
A
 G
G
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.574-6706A>G
c.574-6706A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52445982
chr6:52446069 A
A
 G
G
 1 a0001c0001t0054g0301
a0001c0001t0054g0301
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.574-6619A>G
c.574-6619A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446069
chr6:52446159 G
G
 T
T
 5 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(2): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0019g0008
a0001c0001t0019g0091
 7 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(4): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02258.hp1
HG02559.hp1
HG02809.hp2
HG03098.hp1
 intron_variant MODIFIER c.574-6529G>T
c.574-6529G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446159
chr6:52446461 C
C
 T
T
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.574-6227C>T
c.574-6227C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446461
chr6:52446489 A
A
 C
C
 4 a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0259
others(1): Show 
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0259
a0001c0001t0002g0262
 4 NA18612.hp2
NA18973.hp1
NA18993.hp1
others(1): Show 
NA18612.hp2
NA18973.hp1
NA18993.hp1
NA19068.hp1
 intron_variant MODIFIER c.574-6199A>C
c.574-6199A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446489
chr6:52446548 T
T
 G
G
 2 a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0089
a0001c0001t0009g0090
 2 HG02258.hp1
HG02809.hp2
HG02258.hp1
HG02809.hp2
 intron_variant MODIFIER c.574-6140T>G
c.574-6140T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446548
chr6:52446589 T
T
 G
G
 1 a0011c0013t0004g0143
a0011c0013t0004g0143
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.574-6099T>G
c.574-6099T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446589
chr6:52446592 A
A
 G
G
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.574-6096A>G
c.574-6096A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446592
chr6:52446680 T
T
 A
A
 1 a0003c0003t0003g0218
a0003c0003t0003g0218
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.574-6008T>A
c.574-6008T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446680
chr6:52446686 C
C
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.574-6002C>T
c.574-6002C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446686
chr6:52446771 G
G
 C
C
 291 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(288): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 358 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(355): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.574-5917G>C
c.574-5917G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446771
chr6:52446860 C
C
 A
A
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.574-5828C>A
c.574-5828C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446860
chr6:52446998 T
T
 C
C
 1 a0003c0003t0003g0023
a0003c0003t0003g0023
 2 HG01070.hp1
HG01071.hp1
HG01070.hp1
HG01071.hp1
 intron_variant MODIFIER c.574-5690T>C
c.574-5690T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52446998
chr6:52447038 C
C
 T
T
 1 a0002c0002t0024g0142
a0002c0002t0024g0142
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.574-5650C>T
c.574-5650C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447038
chr6:52447058 A
A
 T
T
 2 a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0257
a0001c0001t0002g0258
 2 NA18941.hp2
NA18957.hp1
NA18941.hp2
NA18957.hp1
 intron_variant MODIFIER c.574-5630A>T
c.574-5630A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447058
chr6:52447290 T
T
 A
A
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.574-5398T>A
c.574-5398T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447290
chr6:52447329 T
T
 C
C
 2 a0001c0001t0022g0068
a0001c0001t0085g0069
a0001c0001t0022g0068
a0001c0001t0085g0069
 2 HG01891.hp1
HG03139.hp1
HG01891.hp1
HG03139.hp1
 intron_variant MODIFIER c.574-5359T>C
c.574-5359T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447329
chr6:52447382 A
A
 G
G
 1 a0011c0013t0004g0143
a0011c0013t0004g0143
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.574-5306A>G
c.574-5306A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447382
chr6:52447570 T
T
 C
C
 286 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(283): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 353 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(350): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.574-5118T>C
c.574-5118T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447570
chr6:52447645 A
A
 C
C
 1 a0001c0001t0006g0036
a0001c0001t0006g0036
 2 NA18956.hp1
NA19011.hp1
NA18956.hp1
NA19011.hp1
 intron_variant MODIFIER c.574-5043A>C
c.574-5043A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447645
chr6:52447697 G
G
 T
T
 1 a0011c0013t0004g0143
a0011c0013t0004g0143
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.574-4991G>T
c.574-4991G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447697
chr6:52447925 C
C
 T
T
 1 a0001c0001t0095g0197
a0001c0001t0095g0197
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.574-4763C>T
c.574-4763C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52447925
chr6:52448067 C
C
 T
T
 1 a0002c0002t0048g0307
a0002c0002t0048g0307
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.574-4621C>T
c.574-4621C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448067
chr6:52448195 C
C
 T
T
 1 a0003c0003t0003g0105
a0003c0003t0003g0105
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.574-4493C>T
c.574-4493C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448195
chr6:52448273 G
G
 A
A
 1 a0001c0001t0019g0091
a0001c0001t0019g0091
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.574-4415G>A
c.574-4415G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448273
chr6:52448373 G
G
 T
T
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.574-4315G>T
c.574-4315G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448373
chr6:52448548 G
G
 A
A
 326 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(323): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0010g0026
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0139
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 393 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(390): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02165.hp1
HG02165.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
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.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.574-4140G>A
c.574-4140G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448548
chr6:52448620 C
C
 T
T
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.574-4068C>T
c.574-4068C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448620
chr6:52448632 G
G
 A
A
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.574-4056G>A
c.574-4056G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448632
chr6:52448673 C
C
 T
T
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.574-4015C>T
c.574-4015C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448673
chr6:52448681 C
C
 T
T
 132 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0011c0013t0004g0143
a0012c0015t0001g0028
 162 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(159): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.574-4007C>T
c.574-4007C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448681
chr6:52448829 G
G
 A
A
 2 a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0156
a0001c0001t0001g0157
 2 HG01074.hp1
NA20805.hp1
HG01074.hp1
NA20805.hp1
 intron_variant MODIFIER c.574-3859G>A
c.574-3859G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448829
chr6:52448867 A
A
 G
G
 1 a0001c0001t0005g0296
a0001c0001t0005g0296
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.574-3821A>G
c.574-3821A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52448867
chr6:52449057 C
C
 A
A
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.574-3631C>A
c.574-3631C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449057
chr6:52449111 C
C
 T
T
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.574-3577C>T
c.574-3577C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449111
chr6:52449121 C
C
 T
T
 6 a0001c0001t0002g0259
a0006c0006t0017g0014
a0006c0006t0017g0195
others(3): Show 
a0001c0001t0002g0259
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 7 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(4): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
NA19068.hp1
 intron_variant MODIFIER c.574-3567C>T
c.574-3567C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449121
chr6:52449243 C
C
 T
T
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.574-3445C>T
c.574-3445C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449243
chr6:52449244 G
G
 A
A
 1 a0004c0004t0038g0217
a0004c0004t0038g0217
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.574-3444G>A
c.574-3444G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449244
chr6:52449276 G
G
 A
A
 1 a0011c0013t0004g0143
a0011c0013t0004g0143
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.574-3412G>A
c.574-3412G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449276
chr6:52449380 C
C
 CA
CA
 33 a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0229
others(30): Show 
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0229
a0001c0001t0002g0246
a0001c0001t0002g0257
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0010g0129
a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0044g0291
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0082g0234
a0001c0001t0083g0274
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0090g0114
a0011c0013t0004g0143
 35 HG01069.hp2
HG01074.hp2
HG01123.hp1
others(32): Show 
HG01069.hp2
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01993.hp2
HG02148.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02572.hp2
HG02630.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA18940.hp2
NA18957.hp1
NA18971.hp1
NA19240.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.574-3291dupA
c.574-3291dupA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52449380
chr6:52449398 T
T
 A
A
 3 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.574-3290T>A
c.574-3290T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449398
chr6:52449415 T
T
 C
C
 24 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(21): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.574-3273T>C
c.574-3273T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449415
chr6:52449467 G
G
 A
A
 54 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(51): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 75 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.574-3221G>A
c.574-3221G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449467
chr6:52449506 T
T
 A
A
 34 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(31): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 41 HG01192.hp1
HG02258.hp2
HG02451.hp1
others(38): Show 
HG01192.hp1
HG02258.hp2
HG02451.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.574-3182T>A
c.574-3182T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449506
chr6:52449586 C
C
 G
G
 24 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(21): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.574-3102C>G
c.574-3102C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449586
chr6:52449768 T
T
 A
A
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.574-2920T>A
c.574-2920T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449768
chr6:52449967 CT
CT
 C
C
 9 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(6): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0037g0149
a0002c0002t0058g0147
a0002c0002t0068g0009
a0002c0002t0071g0148
 9 HG00735.hp1
HG01099.hp1
HG02257.hp2
others(6): Show 
HG00735.hp1
HG01099.hp1
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG03130.hp1
HG06807.hp2
 intron_variant MODIFIER c.574-2720delT
c.574-2720delT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52449967
chr6:52450031 T
T
 C
C
 1 a0002c0002t0053g0209
a0002c0002t0053g0209
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.574-2657T>C
c.574-2657T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52450031
chr6:52450303 G
G
 A
A
 2 a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0038g0221
a0001c0001t0041g0220
 2 HG02451.hp2
HG03225.hp2
HG02451.hp2
HG03225.hp2
 intron_variant MODIFIER c.574-2385G>A
c.574-2385G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52450303
chr6:52450461 A
A
 G
G
 24 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(21): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.574-2227A>G
c.574-2227A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52450461
chr6:52450521 T
T
 G
G
 241 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(238): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0087g0074
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 304 HG00099.hp1
HG00140.hp1
HG00408.hp2
others(301): Show 
HG00099.hp1
HG00140.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.574-2167T>G
c.574-2167T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52450521
chr6:52450727 A
A
 G
G
 12 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(9): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0092g0279
a0001c0001t0095g0197
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 13 HG00438.hp1
HG02129.hp2
HG02258.hp2
others(10): Show 
HG00438.hp1
HG02129.hp2
HG02258.hp2
HG02451.hp1
HG02683.hp2
HG03139.hp2
HG03239.hp1
HG03516.hp1
HG03516.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.574-1961A>G
c.574-1961A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52450727
chr6:52450786 GTTTGTTT
others(6): Show 
GTTTGTTTGTTTGT
 G
G
 3 a0001c0001t0001g0107
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0107
a0001c0001t0001g0156
a0001c0001t0001g0157
 3 HG01074.hp1
HG03471.hp2
NA20805.hp1
HG01074.hp1
HG03471.hp2
NA20805.hp1
 intron_variant MODIFIER c.574-1885_574-1873d
others(15): Show 
c.574-1885_574-1873delGTTTGTTTGTTTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52450786
chr6:52450898 A
A
 G
G
 1 a0001c0001t0062g0298
a0001c0001t0062g0298
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.574-1790A>G
c.574-1790A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52450898
chr6:52450928 A
A
 G
G
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.574-1760A>G
c.574-1760A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52450928
chr6:52451031 C
C
 G
G
 1 a0006c0006t0056g0196
a0006c0006t0056g0196
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.574-1657C>G
c.574-1657C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52451031
chr6:52451163 A
A
 G
G
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.574-1525A>G
c.574-1525A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52451163
chr6:52451625 CCTTGCAT
others(5): Show 
CCTTGCATAGAAT
 C
C
 2 a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0029g0108
a0001c0001t0029g0120
 2 HG01069.hp1
HG01071.hp2
HG01069.hp1
HG01071.hp2
 intron_variant MODIFIER c.574-1056_574-1045d
others(14): Show 
c.574-1056_574-1045delTAGAATCTTGCA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52451625
chr6:52452035 CA
CA
 C
C
 3 a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
 3 HG02257.hp1
HG02922.hp1
NA19240.hp2
HG02257.hp1
HG02922.hp1
NA19240.hp2
 intron_variant MODIFIER c.574-651delA
c.574-651delA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 INFO_REALIGN_3_PRIME chr6 52452035
chr6:52452044 G
G
 A
A
 68 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(65): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 93 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(90): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.574-644G>A
c.574-644G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52452044
chr6:52452080 T
T
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.574-608T>G
c.574-608T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52452080
chr6:52452130 G
G
 C
C
 34 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(31): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 41 HG01192.hp1
HG02258.hp2
HG02451.hp1
others(38): Show 
HG01192.hp1
HG02258.hp2
HG02451.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.574-558G>C
c.574-558G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52452130
chr6:52452238 C
C
 T
T
 2 a0001c0001t0022g0068
a0001c0001t0085g0069
a0001c0001t0022g0068
a0001c0001t0085g0069
 2 HG01891.hp1
HG03139.hp1
HG01891.hp1
HG03139.hp1
 intron_variant MODIFIER c.574-450C>T
c.574-450C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52452238
chr6:52452326 G
G
 A
A
 2 a0001c0001t0001g0168
a0004c0004t0077g0123
a0001c0001t0001g0168
a0004c0004t0077g0123
 2 HG02165.hp1
HG03017.hp2
HG02165.hp1
HG03017.hp2
 intron_variant MODIFIER c.574-362G>A
c.574-362G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52452326
chr6:52452460 C
C
 T
T
 1 a0001c0001t0027g0092
a0001c0001t0027g0092
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.574-228C>T
c.574-228C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52452460
chr6:52452532 G
G
 A
A
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.574-156G>A
c.574-156G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 3/10 chr6 52452532
chr6:52453045 C
C
 T
T
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.723+208C>T
c.723+208C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/10 chr6 52453045
chr6:52453532 T
T
 G
G
 3 a0001c0001t0002g0231
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0231
a0001c0001t0002g0264
a0001c0001t0002g0266
 3 HG02155.hp1
HG04184.hp1
NA19080.hp1
HG02155.hp1
HG04184.hp1
NA19080.hp1
 intron_variant MODIFIER c.724-563T>G
c.724-563T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/10 chr6 52453532
chr6:52453575 T
T
 A
A
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.724-520T>A
c.724-520T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/10 chr6 52453575
chr6:52453622 C
C
 CA
CA
 12 a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0004g0232
others(9): Show 
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0004g0232
a0001c0001t0044g0291
a0002c0002t0034g0216
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0003c0003t0018g0098
 12 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(9): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02809.hp1
HG02897.hp2
HG03017.hp2
NA18940.hp2
NA18949.hp1
NA19078.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.724-456dupA
c.724-456dupA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/10 INFO_REALIGN_3_PRIME chr6 52453622
chr6:52453817 T
T
 C
C
 1 a0003c0003t0003g0099
a0003c0003t0003g0099
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.724-278T>C
c.724-278T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/10 chr6 52453817
chr6:52453889 C
C
 A
A
 1 a0001c0001t0013g0038
a0001c0001t0013g0038
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.724-206C>A
c.724-206C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 4/10 chr6 52453889
chr6:52454369 C
C
 T
T
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.916+82C>T
c.916+82C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454369
chr6:52454453 C
C
 T
T
 173 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(170): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 211 HG00140.hp1
HG00408.hp2
HG00438.hp1
others(208): Show 
HG00140.hp1
HG00408.hp2
HG00438.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.916+166C>T
c.916+166C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454453
chr6:52454615 C
C
 G
G
 4 a0001c0001t0002g0018
a0001c0001t0002g0229
a0001c0001t0002g0230
others(1): Show 
a0001c0001t0002g0018
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0268
 6 NA18953.hp1
NA18971.hp1
NA19005.hp2
others(3): Show 
NA18953.hp1
NA18971.hp1
NA19005.hp2
NA19009.hp1
NA19058.hp1
NA19085.hp1
 intron_variant MODIFIER c.916+328C>G
c.916+328C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454615
chr6:52454783 T
T
 A
A
 34 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(31): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 41 HG01192.hp1
HG02258.hp2
HG02451.hp1
others(38): Show 
HG01192.hp1
HG02258.hp2
HG02451.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.916+496T>A
c.916+496T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454783
chr6:52454803 T
T
 G
G
 12 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(9): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0087g0074
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
 13 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(10): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02145.hp1
HG02735.hp2
HG03654.hp2
HG03710.hp1
 intron_variant MODIFIER c.916+516T>G
c.916+516T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454803
chr6:52454907 C
C
 T
T
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.916+620C>T
c.916+620C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454907
chr6:52454908 G
G
 A
A
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.916+621G>A
c.916+621G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454908
chr6:52454926 T
T
 A
A
 1 a0001c0001t0031g0134
a0001c0001t0031g0134
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.916+639T>A
c.916+639T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454926
chr6:52454993 G
G
 T
T
 1 a0001c0001t0099g0183
a0001c0001t0099g0183
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.916+706G>T
c.916+706G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454993
chr6:52454998 G
G
 A
A
 2 a0001c0001t0002g0239
a0001c0001t0089g0240
a0001c0001t0002g0239
a0001c0001t0089g0240
 2 HG00544.hp2
NA19057.hp1
HG00544.hp2
NA19057.hp1
 intron_variant MODIFIER c.916+711G>A
c.916+711G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52454998
chr6:52455083 C
C
 T
T
 1 a0001c0001t0006g0290
a0001c0001t0006g0290
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.916+796C>T
c.916+796C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455083
chr6:52455098 G
G
 T
T
 1 a0002c0002t0053g0209
a0002c0002t0053g0209
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.916+811G>T
c.916+811G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455098
chr6:52455178 A
A
 T
T
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.916+891A>T
c.916+891A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455178
chr6:52455308 A
A
 G
G
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+1021A>G
c.916+1021A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455308
chr6:52455350 A
A
 T
T
 3 a0001c0001t0007g0041
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0007g0041
a0001c0001t0011g0062
a0001c0001t0011g0063
 3 HG01255.hp2
HG02895.hp1
HG02897.hp1
HG01255.hp2
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.916+1063A>T
c.916+1063A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455350
chr6:52455483 T
T
 C
C
 3 a0001c0001t0012g0019
a0001c0001t0012g0046
a0001c0011t0011g0019
a0001c0001t0012g0019
a0001c0001t0012g0046
a0001c0011t0011g0019
 3 HG03688.hp1
HG03927.hp1
HG03942.hp1
HG03688.hp1
HG03927.hp1
HG03942.hp1
 intron_variant MODIFIER c.916+1196T>C
c.916+1196T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455483
chr6:52455578 C
C
 T
T
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.916+1291C>T
c.916+1291C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455578
chr6:52455600 G
G
 A
A
 14 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
others(11): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
 18 HG01074.hp2
HG01123.hp1
HG01255.hp1
others(15): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG01928.hp1
HG02055.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03540.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.916+1313G>A
c.916+1313G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455600
chr6:52455653 C
C
 CA
CA
 78 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(75): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0037g0149
a0002c0002t0058g0147
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0086g0071
 103 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(100): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02293.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.916+1377dupA
c.916+1377dupA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52455653
chr6:52455901 G
G
 A
A
 105 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 135 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.916+1614G>A
c.916+1614G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52455901
chr6:52456101 G
G
 A
A
 1 a0001c0001t0006g0067
a0001c0001t0006g0067
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.916+1814G>A
c.916+1814G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456101
chr6:52456158 A
A
 T
T
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.916+1871A>T
c.916+1871A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456158
chr6:52456170 A
A
 G
G
 2 a0002c0002t0055g0214
a0002c0002t0067g0215
a0002c0002t0055g0214
a0002c0002t0067g0215
 2 HG02572.hp2
NA19240.hp1
HG02572.hp2
NA19240.hp1
 intron_variant MODIFIER c.916+1883A>G
c.916+1883A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456170
chr6:52456434 A
A
 G
G
 54 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(51): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 75 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.916+2147A>G
c.916+2147A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456434
chr6:52456551 C
C
 T
T
 1 a0001c0001t0002g0228
a0001c0001t0002g0228
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.916+2264C>T
c.916+2264C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456551
chr6:52456643 G
G
 A
A
 6 a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
others(3): Show 
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0155
a0001c0001t0001g0170
a0001c0001t0001g0190
 6 HG00408.hp2
NA18939.hp1
NA18962.hp2
others(3): Show 
HG00408.hp2
NA18939.hp1
NA18962.hp2
NA18969.hp1
NA18977.hp2
NA19086.hp1
 intron_variant MODIFIER c.916+2356G>A
c.916+2356G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456643
chr6:52456649 G
G
 A
A
 1 a0001c0001t0005g0293
a0001c0001t0005g0293
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.916+2362G>A
c.916+2362G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456649
chr6:52456712 G
G
 A
A
 2 a0001c0001t0001g0171
a0001c0001t0001g0199
a0001c0001t0001g0171
a0001c0001t0001g0199
 2 NA18982.hp2
NA18987.hp1
NA18982.hp2
NA18987.hp1
 intron_variant MODIFIER c.916+2425G>A
c.916+2425G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456712
chr6:52456786 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.916+2499G>A
c.916+2499G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52456786
chr6:52457008 G
G
 C
C
 2 a0001c0001t0007g0040
a0001c0001t0013g0054
a0001c0001t0007g0040
a0001c0001t0013g0054
 2 NA18947.hp1
NA18992.hp2
NA18947.hp1
NA18992.hp2
 intron_variant MODIFIER c.916+2721G>C
c.916+2721G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457008
chr6:52457034 G
G
 A
A
 3 a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 3 HG02451.hp1
HG03139.hp2
HG03516.hp1
HG02451.hp1
HG03139.hp2
HG03516.hp1
 intron_variant MODIFIER c.916+2747G>A
c.916+2747G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457034
chr6:52457091 G
G
 T
T
 2 a0001c0001t0002g0228
a0001c0001t0002g0253
a0001c0001t0002g0228
a0001c0001t0002g0253
 2 HG00099.hp1
HG00738.hp1
HG00099.hp1
HG00738.hp1
 intron_variant MODIFIER c.916+2804G>T
c.916+2804G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457091
chr6:52457147 T
T
 C
C
 1 a0001c0001t0013g0052
a0001c0001t0013g0052
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.916+2860T>C
c.916+2860T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457147
chr6:52457475 T
T
 C
C
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.916+3188T>C
c.916+3188T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457475
chr6:52457619 C
C
 T
T
 60 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(57): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0099g0183
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 79 HG00408.hp2
HG00558.hp1
HG00735.hp2
others(76): Show 
HG00408.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01192.hp2
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.916+3332C>T
c.916+3332C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457619
chr6:52457692 G
G
 T
T
 1 a0001c0001t0002g0269
a0001c0001t0002g0269
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.916+3405G>T
c.916+3405G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457692
chr6:52457702 C
C
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.916+3415C>G
c.916+3415C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457702
chr6:52457895 A
A
 G
G
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.916+3608A>G
c.916+3608A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52457895
chr6:52458268 GA
GA
 G
G
 34 a0001c0001t0001g0181
a0001c0001t0009g0008
a0001c0001t0009g0089
others(31): Show 
a0001c0001t0001g0181
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 44 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(41): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03669.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.916+3990delA
c.916+3990delA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52458268
chr6:52458272 A
A
 G
G
 34 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(31): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 37 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(34): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+3985A>G
c.916+3985A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458272
chr6:52458277 A
A
 G
G
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.916+3990A>G
c.916+3990A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458277
chr6:52458302 GACAATTG
others(13): Show 
GACAATTGGGACCTAATTAAA
 G
G
 1 a0001c0001t0005g0304
a0001c0001t0005g0304
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.916+4016_916+4035d
others(22): Show 
c.916+4016_916+4035delACAATTGGGACCTAATTAAA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458302
chr6:52458415 G
G
 A
A
 12 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(9): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0087g0074
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
 13 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(10): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02145.hp1
HG02735.hp2
HG03654.hp2
HG03710.hp1
 intron_variant MODIFIER c.916+4128G>A
c.916+4128G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458415
chr6:52458422 A
A
 G
G
 1 a0001c0001t0025g0110
a0001c0001t0025g0110
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.916+4135A>G
c.916+4135A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458422
chr6:52458432 T
T
 G
G
 14 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
others(11): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
 18 HG01074.hp2
HG01123.hp1
HG01255.hp1
others(15): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG01928.hp1
HG02055.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03540.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.916+4145T>G
c.916+4145T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458432
chr6:52458594 C
C
 G
G
 1 a0004c0004t0015g0127
a0004c0004t0015g0127
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.916+4307C>G
c.916+4307C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458594
chr6:52458662 T
T
 TA
TA
 132 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0011c0013t0004g0143
a0012c0015t0001g0028
 162 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(159): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.916+4375_916+4376i
others(3): Show 
c.916+4375_916+4376insA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458662
chr6:52458672 T
T
 C
C
 286 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(283): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 353 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(350): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+4385T>C
c.916+4385T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458672
chr6:52458785 A
A
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.916+4498A>G
c.916+4498A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458785
chr6:52458816 C
C
 A
A
 2 a0003c0003t0003g0218
a0003c0003t0022g0219
a0003c0003t0003g0218
a0003c0003t0022g0219
 2 HG02280.hp1
HG02622.hp1
HG02280.hp1
HG02622.hp1
 intron_variant MODIFIER c.916+4529C>A
c.916+4529C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458816
chr6:52458960 C
C
 T
T
 14 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
others(11): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
 18 HG01074.hp2
HG01123.hp1
HG01255.hp1
others(15): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG01928.hp1
HG02055.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03540.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.916+4673C>T
c.916+4673C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458960
chr6:52458964 G
G
 A
A
 2 a0001c0001t0013g0038
a0001c0001t0013g0045
a0001c0001t0013g0038
a0001c0001t0013g0045
 2 HG01109.hp2
HG01358.hp1
HG01109.hp2
HG01358.hp1
 intron_variant MODIFIER c.916+4677G>A
c.916+4677G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458964
chr6:52458986 C
C
 T
T
 1 a0001c0001t0010g0129
a0001c0001t0010g0129
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.916+4699C>T
c.916+4699C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52458986
chr6:52459094 G
G
 C
C
 1 a0001c0001t0007g0053
a0001c0001t0007g0053
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.916+4807G>C
c.916+4807G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459094
chr6:52459356 C
C
 T
T
 41 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(38): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 49 HG00438.hp1
HG01192.hp1
HG02129.hp2
others(46): Show 
HG00438.hp1
HG01192.hp1
HG02129.hp2
HG02258.hp2
HG02451.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03239.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03942.hp2
HG04115.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.916+5069C>T
c.916+5069C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459356
chr6:52459421 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.916+5134A>G
c.916+5134A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459421
chr6:52459446 G
G
 C
C
 60 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(57): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0099g0183
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 79 HG00408.hp2
HG00558.hp1
HG00735.hp2
others(76): Show 
HG00408.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01192.hp2
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.916+5159G>C
c.916+5159G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459446
chr6:52459451 C
C
 G
G
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.916+5164C>G
c.916+5164C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459451
chr6:52459569 C
C
 T
T
 1 a0001c0001t0007g0051
a0001c0001t0007g0051
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.916+5282C>T
c.916+5282C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459569
chr6:52459644 C
C
 T
T
 1 a0004c0004t0081g0133
a0004c0004t0081g0133
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.917-5251C>T
c.917-5251C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459644
chr6:52459661 TTTTG
TTTTG
 T
T
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.917-5210_917-5207d
others(6): Show 
c.917-5210_917-5207delGTTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52459661
chr6:52459662 TTTGTTTG
TTTGTTTG
 T
T
 3 a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
 3 HG02451.hp1
HG03139.hp2
HG03516.hp1
HG02451.hp1
HG03139.hp2
HG03516.hp1
 intron_variant MODIFIER c.917-5230_917-5224d
others(9): Show 
c.917-5230_917-5224delGTTTGTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52459662
chr6:52459689 T
T
 G
G
 1 a0004c0004t0016g0192
a0004c0004t0016g0192
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.917-5206T>G
c.917-5206T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459689
chr6:52459695 G
G
 A
A
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.917-5200G>A
c.917-5200G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459695
chr6:52459698 G
G
 T
T
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-5197G>T
c.917-5197G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459698
chr6:52459718 AG
AG
 A
A
 14 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
others(11): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
 18 HG01074.hp2
HG01123.hp1
HG01255.hp1
others(15): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG01928.hp1
HG02055.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03540.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.917-5175delG
c.917-5175delG
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52459718
chr6:52459802 G
G
 A
A
 1 a0001c0001t0087g0074
a0001c0001t0087g0074
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.917-5093G>A
c.917-5093G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459802
chr6:52459831 C
C
 T
T
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.917-5064C>T
c.917-5064C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459831
chr6:52459880 T
T
 G
G
 1 a0002c0002t0033g0146
a0002c0002t0033g0146
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.917-5015T>G
c.917-5015T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459880
chr6:52459935 A
A
 G
G
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-4960A>G
c.917-4960A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52459935
chr6:52460199 A
A
 T
T
 1 a0001c0001t0004g0224
a0001c0001t0004g0224
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.917-4696A>T
c.917-4696A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460199
chr6:52460256 G
G
 A
A
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.917-4639G>A
c.917-4639G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460256
chr6:52460421 G
G
 T
T
 1 a0001c0001t0020g0094
a0001c0001t0020g0094
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.917-4474G>T
c.917-4474G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460421
chr6:52460469 T
T
 C
C
 21 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(18): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0011c0013t0004g0143
 21 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(18): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-4426T>C
c.917-4426T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460469
chr6:52460550 A
A
 G
G
 1 a0001c0001t0004g0276
a0001c0001t0004g0276
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.917-4345A>G
c.917-4345A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460550
chr6:52460644 C
C
 T
T
 1 a0007c0007t0001g0160
a0007c0007t0001g0160
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.917-4251C>T
c.917-4251C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460644
chr6:52460691 C
C
 G
G
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.917-4204C>G
c.917-4204C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460691
chr6:52460903 G
G
 A
A
 9 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(6): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0037g0149
a0002c0002t0058g0147
a0002c0002t0068g0009
a0002c0002t0071g0148
 9 HG00735.hp1
HG01099.hp1
HG02257.hp2
others(6): Show 
HG00735.hp1
HG01099.hp1
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG03130.hp1
HG06807.hp2
 intron_variant MODIFIER c.917-3992G>A
c.917-3992G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460903
chr6:52460962 A
A
 G
G
 1 a0007c0007t0001g0160
a0007c0007t0001g0160
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.917-3933A>G
c.917-3933A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52460962
chr6:52461012 C
C
 A
A
 131 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0011c0013t0004g0143
a0012c0015t0001g0028
 161 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(158): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-3883C>A
c.917-3883C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461012
chr6:52461074 A
A
 T
T
 12 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(9): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0087g0074
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
 13 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(10): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02145.hp1
HG02735.hp2
HG03654.hp2
HG03710.hp1
 intron_variant MODIFIER c.917-3821A>T
c.917-3821A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461074
chr6:52461075 T
T
 A
A
 2 a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0038g0221
a0001c0001t0041g0220
 2 HG02451.hp2
HG03225.hp2
HG02451.hp2
HG03225.hp2
 intron_variant MODIFIER c.917-3820T>A
c.917-3820T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461075
chr6:52461156 A
A
 G
G
 2 a0001c0001t0022g0068
a0001c0001t0085g0069
a0001c0001t0022g0068
a0001c0001t0085g0069
 2 HG01891.hp1
HG03139.hp1
HG01891.hp1
HG03139.hp1
 intron_variant MODIFIER c.917-3739A>G
c.917-3739A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461156
chr6:52461589 T
T
 C
C
 69 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(66): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
a0009c0009t0046g0281
 94 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(91): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.917-3306T>C
c.917-3306T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461589
chr6:52461812 A
A
 C
C
 1 a0001c0001t0038g0221
a0001c0001t0038g0221
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.917-3083A>C
c.917-3083A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461812
chr6:52461916 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.917-2979G>A
c.917-2979G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461916
chr6:52461992 A
A
 G
G
 1 a0001c0001t0006g0289
a0001c0001t0006g0289
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.917-2903A>G
c.917-2903A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52461992
chr6:52462212 C
C
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.917-2683C>T
c.917-2683C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462212
chr6:52462281 A
A
 G
G
 1 a0001c0001t0002g0256
a0001c0001t0002g0256
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.917-2614A>G
c.917-2614A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462281
chr6:52462346 G
G
 C
C
 4 a0001c0001t0092g0279
a0001c0001t0095g0197
a0009c0009t0091g0280
others(1): Show 
a0001c0001t0092g0279
a0001c0001t0095g0197
a0009c0009t0091g0280
a0009c0009t0093g0278
 4 HG02258.hp2
HG02451.hp1
HG03516.hp1
others(1): Show 
HG02258.hp2
HG02451.hp1
HG03516.hp1
HG03516.hp2
 intron_variant MODIFIER c.917-2549G>C
c.917-2549G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462346
chr6:52462499 A
A
 T
T
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.917-2396A>T
c.917-2396A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462499
chr6:52462547 T
T
 A
A
 1 a0008c0008t0014g0095
a0008c0008t0014g0095
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.917-2348T>A
c.917-2348T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462547
chr6:52462568 A
A
 G
G
 19 a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
others(16): Show 
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
 25 HG00642.hp1
HG00733.hp1
HG01070.hp1
others(22): Show 
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01934.hp2
HG02071.hp2
HG02132.hp2
HG02280.hp1
HG02622.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.917-2327A>G
c.917-2327A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462568
chr6:52462569 A
A
 C
C
 19 a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
others(16): Show 
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
 25 HG00642.hp1
HG00733.hp1
HG01070.hp1
others(22): Show 
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01934.hp2
HG02071.hp2
HG02132.hp2
HG02280.hp1
HG02622.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.917-2326A>C
c.917-2326A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462569
chr6:52462660 C
C
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.917-2235C>T
c.917-2235C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462660
chr6:52462758 C
C
 T
T
 69 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(66): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
a0009c0009t0046g0281
 94 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(91): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.917-2137C>T
c.917-2137C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462758
chr6:52462784 A
A
 C
C
 60 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(57): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0099g0183
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 79 HG00408.hp2
HG00558.hp1
HG00735.hp2
others(76): Show 
HG00408.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01192.hp2
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.917-2111A>C
c.917-2111A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462784
chr6:52462785 G
G
 A
A
 1 a0007c0007t0001g0161
a0007c0007t0001g0161
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.917-2110G>A
c.917-2110G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462785
chr6:52462877 G
G
 A
A
 1 a0002c0002t0058g0147
a0002c0002t0058g0147
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.917-2018G>A
c.917-2018G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52462877
chr6:52462885 C
C
 CA
CA
 13 a0001c0001t0001g0115
a0001c0001t0001g0193
a0001c0001t0002g0242
others(10): Show 
a0001c0001t0001g0115
a0001c0001t0001g0193
a0001c0001t0002g0242
a0001c0001t0004g0233
a0001c0001t0005g0293
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0004c0004t0008g0066
a0011c0013t0004g0143
 13 HG01074.hp2
HG01891.hp2
HG01975.hp2
others(10): Show 
HG01074.hp2
HG01891.hp2
HG01975.hp2
HG02135.hp1
HG02148.hp2
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG03041.hp1
HG03195.hp1
HG03453.hp1
NA18977.hp1
 intron_variant MODIFIER c.917-1994dupA
c.917-1994dupA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52462885
chr6:52462885 C
C
 CAA
CAA
 73 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(70): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
 94 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(91): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00735.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01175.hp2
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03130.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-1995_917-1994d
others(4): Show 
c.917-1995_917-1994dupAA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52462885
chr6:52462885 CA
CA
 C
C
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.917-1994delA
c.917-1994delA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52462885
chr6:52462931 CATAAA
CATAAA
 C
C
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.917-1954_917-1950d
others(7): Show 
c.917-1954_917-1950delAATAA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52462931
chr6:52463001 TTTTGTTT
others(8): Show 
TTTTGTTTTGTTTTTG
 T
T
 1 a0003c0003t0003g0097
a0003c0003t0003g0097
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.917-1880_917-1866d
others(17): Show 
c.917-1880_917-1866delTGTTTGTTTTGTTTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52463001
chr6:52463016 G
G
 GTTTGT
GTTTGT
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-1866_917-1862d
others(7): Show 
c.917-1866_917-1862dupTGTTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52463016
chr6:52463081 G
G
 A
A
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.917-1814G>A
c.917-1814G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463081
chr6:52463189 A
A
 G
G
 1 a0001c0001t0002g0252
a0001c0001t0002g0252
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.917-1706A>G
c.917-1706A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463189
chr6:52463194 A
A
 AT
AT
 172 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0031
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0006g0294
a0001c0001t0007g0041
a0001c0001t0007g0057
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0027g0092
a0001c0001t0030g0039
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0132
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0059g0131
a0001c0001t0065g0177
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0094g0295
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0014t0002g0241
a0002c0002t0033g0146
a0002c0002t0079g0212
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0066
a0005c0005t0001g0022
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0012c0015t0001g0028
 225 HG00099.hp1
HG00140.hp1
HG00408.hp2
others(222): Show 
HG00099.hp1
HG00140.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18946.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19076.hp1
NA19076.hp2
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.917-1684dupT
c.917-1684dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52463194
chr6:52463194 A
A
 ATT
ATT
 41 a0001c0001t0001g0107
a0001c0001t0002g0030
a0001c0001t0002g0032
others(38): Show 
a0001c0001t0001g0107
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0246
a0001c0001t0002g0251
a0001c0001t0004g0237
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0087g0074
a0001c0001t0092g0279
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0003c0003t0003g0097
a0005c0005t0001g0076
a0005c0005t0001g0083
 50 HG00642.hp2
HG01175.hp1
HG01928.hp2
others(47): Show 
HG00642.hp2
HG01175.hp1
HG01928.hp2
HG01952.hp2
HG01993.hp2
HG02055.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp1
HG02735.hp1
HG02922.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03927.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18947.hp2
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.917-1685_917-1684d
others(4): Show 
c.917-1685_917-1684dupTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52463194
chr6:52463194 A
A
 ATTT
ATTT
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0057g0299
a0001c0001t0062g0298
a0009c0009t0091g0280
a0009c0009t0093g0278
 8 HG00438.hp1
HG02129.hp2
HG02451.hp1
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02451.hp1
HG02683.hp2
HG03516.hp1
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.917-1686_917-1684d
others(5): Show 
c.917-1686_917-1684dupTTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 INFO_REALIGN_3_PRIME chr6 52463194
chr6:52463251 C
C
 T
T
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.917-1644C>T
c.917-1644C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463251
chr6:52463252 G
G
 A
A
 11 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0232
others(8): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0082g0234
 15 HG01074.hp2
HG01123.hp1
HG01255.hp1
others(12): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG02055.hp1
HG02809.hp1
HG02886.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03453.hp2
HG03540.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.917-1643G>A
c.917-1643G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463252
chr6:52463273 C
C
 T
T
 3 a0001c0001t0007g0041
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0007g0041
a0001c0001t0011g0062
a0001c0001t0011g0063
 3 HG01255.hp2
HG02895.hp1
HG02897.hp1
HG01255.hp2
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.917-1622C>T
c.917-1622C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463273
chr6:52463283 A
A
 G
G
 1 a0001c0001t0013g0054
a0001c0001t0013g0054
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.917-1612A>G
c.917-1612A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463283
chr6:52463318 G
G
 A
A
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.917-1577G>A
c.917-1577G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463318
chr6:52463445 A
A
 G
G
 1 a0001c0001t0002g0264
a0001c0001t0002g0264
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.917-1450A>G
c.917-1450A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463445
chr6:52463614 G
G
 A
A
 132 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0011c0013t0004g0143
a0012c0015t0001g0028
 162 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(159): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-1281G>A
c.917-1281G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463614
chr6:52463853 C
C
 A
A
 1 a0001c0001t0002g0254
a0001c0001t0002g0254
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.917-1042C>A
c.917-1042C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52463853
chr6:52464377 G
G
 T
T
 1 a0001c0001t0002g0228
a0001c0001t0002g0228
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.917-518G>T
c.917-518G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464377
chr6:52464394 G
G
 C
C
 291 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(288): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 358 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(355): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.917-501G>C
c.917-501G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464394
chr6:52464441 T
T
 C
C
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.917-454T>C
c.917-454T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464441
chr6:52464522 G
G
 A
A
 1 a0001c0001t0037g0088
a0001c0001t0037g0088
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.917-373G>A
c.917-373G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464522
chr6:52464568 C
C
 G
G
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.917-327C>G
c.917-327C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464568
chr6:52464698 A
A
 G
G
 3 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.917-197A>G
c.917-197A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464698
chr6:52464712 G
G
 A
A
 24 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(21): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.917-183G>A
c.917-183G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464712
chr6:52464777 G
G
 T
T
 54 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(51): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 75 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.917-118G>T
c.917-118G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464777
chr6:52464839 T
T
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.917-56T>A
c.917-56T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464839
chr6:52464840 C
C
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.917-55C>A
c.917-55C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464840
chr6:52464841 T
T
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.917-54T>A
c.917-54T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464841
chr6:52464842 T
T
 G
G
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.917-53T>G
c.917-53T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464842
chr6:52464843 T
T
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.917-52T>A
c.917-52T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 5/10 chr6 52464843
chr6:52465606 A
A
 G
G
 1 a0004c0004t0026g0140
a0004c0004t0026g0140
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.1137+491A>G
c.1137+491A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465606
chr6:52465614 C
C
 A
A
 1 a0001c0001t0088g0056
a0001c0001t0088g0056
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1137+499C>A
c.1137+499C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465614
chr6:52465614 C
C
 G
G
 1 a0006c0006t0072g0194
a0006c0006t0072g0194
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1137+499C>G
c.1137+499C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465614
chr6:52465824 T
T
 C
C
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.1137+709T>C
c.1137+709T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465824
chr6:52465840 A
A
 G
G
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.1137+725A>G
c.1137+725A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465840
chr6:52465868 ATATT
ATATT
 A
A
 3 a0001c0001t0012g0019
a0001c0001t0012g0046
a0001c0011t0011g0019
a0001c0001t0012g0019
a0001c0001t0012g0046
a0001c0011t0011g0019
 3 HG03688.hp1
HG03927.hp1
HG03942.hp1
HG03688.hp1
HG03927.hp1
HG03942.hp1
 intron_variant MODIFIER c.1137+754_1137+757d
others(6): Show 
c.1137+754_1137+757delTATT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465868
chr6:52465873 A
A
 C
C
 1 a0011c0013t0004g0143
a0011c0013t0004g0143
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1137+758A>C
c.1137+758A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465873
chr6:52465885 G
G
 C
C
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.1137+770G>C
c.1137+770G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465885
chr6:52465889 A
A
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1137+774A>T
c.1137+774A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52465889
chr6:52466054 A
A
 G
G
 1 a0009c0009t0046g0281
a0009c0009t0046g0281
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1137+939A>G
c.1137+939A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466054
chr6:52466064 G
G
 A
A
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1137+949G>A
c.1137+949G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466064
chr6:52466325 G
G
 A
A
 9 a0001c0001t0001g0010
a0001c0001t0001g0116
a0001c0001t0001g0169
others(6): Show 
a0001c0001t0001g0010
a0001c0001t0001g0116
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0182
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0200
 12 HG00558.hp1
HG02083.hp1
HG02155.hp2
others(9): Show 
HG00558.hp1
HG02083.hp1
HG02155.hp2
HG02165.hp2
NA18612.hp1
NA18956.hp2
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19078.hp2
NA19091.hp1
 intron_variant MODIFIER c.1137+1210G>A
c.1137+1210G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466325
chr6:52466349 T
T
 G
G
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1137+1234T>G
c.1137+1234T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466349
chr6:52466475 C
C
 T
T
 1 a0001c0001t0001g0180
a0001c0001t0001g0180
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1137+1360C>T
c.1137+1360C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466475
chr6:52466595 T
T
 A
A
 1 a0002c0002t0058g0147
a0002c0002t0058g0147
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1137+1480T>A
c.1137+1480T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466595
chr6:52466979 T
T
 G
G
 24 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(21): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1137+1864T>G
c.1137+1864T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466979
chr6:52466988 C
C
 T
T
 1 a0001c0001t0001g0179
a0001c0001t0001g0179
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1137+1873C>T
c.1137+1873C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52466988
chr6:52467028 CAG
CAG
 C
C
 40 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(37): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0091g0280
a0009c0009t0093g0278
 48 HG00438.hp1
HG01192.hp1
HG02129.hp2
others(45): Show 
HG00438.hp1
HG01192.hp1
HG02129.hp2
HG02258.hp2
HG02451.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03942.hp2
HG04115.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1137+1914_1137+191
others(6): Show 
c.1137+1914_1137+1915delAG
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467028
chr6:52467141 A
A
 G
G
 244 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(241): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0087g0074
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 307 HG00099.hp1
HG00140.hp1
HG00408.hp2
others(304): Show 
HG00099.hp1
HG00140.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1137+2026A>G
c.1137+2026A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467141
chr6:52467181 C
C
 CT
CT
 42 a0001c0001t0001g0174
a0001c0001t0001g0178
a0001c0001t0002g0231
others(39): Show 
a0001c0001t0001g0174
a0001c0001t0001g0178
a0001c0001t0002g0231
a0001c0001t0002g0250
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0049g0282
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
a0005c0005t0001g0096
a0007c0007t0001g0163
 45 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(42): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01934.hp1
HG02015.hp2
HG02074.hp1
HG02080.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02523.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp1
HG02976.hp2
HG03239.hp1
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19085.hp2
NA19089.hp1
NA19091.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1137+2084dupT
c.1137+2084dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 INFO_REALIGN_3_PRIME chr6 52467181
chr6:52467181 CT
CT
 C
C
 16 a0001c0001t0002g0261
a0001c0001t0006g0294
a0002c0002t0034g0208
others(13): Show 
a0001c0001t0002g0261
a0001c0001t0006g0294
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0005c0005t0001g0079
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 17 HG01069.hp2
HG01517.hp1
HG02109.hp2
others(14): Show 
HG01069.hp2
HG01517.hp1
HG02109.hp2
HG02280.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03540.hp1
NA18906.hp1
NA19055.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1137+2084delT
c.1137+2084delT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 INFO_REALIGN_3_PRIME chr6 52467181
chr6:52467222 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1137+2107C>T
c.1137+2107C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467222
chr6:52467259 G
G
 T
T
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-2074G>T
c.1138-2074G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467259
chr6:52467284 C
C
 T
T
 4 a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
others(1): Show 
a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0012g0021
 4 HG01515.hp2
HG01517.hp2
NA20905.hp1
others(1): Show 
HG01515.hp2
HG01517.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-2049C>T
c.1138-2049C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467284
chr6:52467353 G
G
 C
C
 105 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 135 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1138-1980G>C
c.1138-1980G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467353
chr6:52467368 AC
AC
 A
A
 60 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(57): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0099g0183
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 79 HG00408.hp2
HG00558.hp1
HG00735.hp2
others(76): Show 
HG00408.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01192.hp2
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1138-1964delC
c.1138-1964delC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467368
chr6:52467440 C
C
 G
G
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-1893C>G
c.1138-1893C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467440
chr6:52467548 A
A
 G
G
 1 a0001c0001t0011g0050
a0001c0001t0011g0050
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1138-1785A>G
c.1138-1785A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467548
chr6:52467562 C
C
 T
T
 33 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(30): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0008c0008t0014g0012
a0008c0008t0014g0095
 43 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(40): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp2
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.1138-1771C>T
c.1138-1771C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467562
chr6:52467751 C
C
 T
T
 1 a0001c0001t0065g0177
a0001c0001t0065g0177
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.1138-1582C>T
c.1138-1582C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467751
chr6:52467752 T
T
 C
C
 1 a0001c0001t0065g0177
a0001c0001t0065g0177
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.1138-1581T>C
c.1138-1581T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467752
chr6:52467755 C
C
 T
T
 1 a0001c0001t0065g0177
a0001c0001t0065g0177
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.1138-1578C>T
c.1138-1578C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467755
chr6:52467784 A
A
 G
G
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1138-1549A>G
c.1138-1549A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52467784
chr6:52468054 A
A
 G
G
 54 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(51): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 75 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.1138-1279A>G
c.1138-1279A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468054
chr6:52468080 G
G
 A
A
 1 a0001c0001t0041g0220
a0001c0001t0041g0220
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1138-1253G>A
c.1138-1253G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468080
chr6:52468176 T
T
 C
C
 1 a0001c0010t0052g0207
a0001c0010t0052g0207
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1138-1157T>C
c.1138-1157T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468176
chr6:52468222 C
C
 T
T
 1 a0004c0004t0010g0126
a0004c0004t0010g0126
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.1138-1111C>T
c.1138-1111C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468222
chr6:52468293 G
G
 A
A
 69 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(66): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
a0009c0009t0046g0281
 94 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(91): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.1138-1040G>A
c.1138-1040G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468293
chr6:52468385 A
A
 G
G
 9 a0001c0001t0001g0027
a0001c0001t0001g0150
a0001c0001t0001g0151
others(6): Show 
a0001c0001t0001g0027
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0155
a0001c0001t0001g0170
a0001c0001t0001g0184
a0001c0001t0001g0190
 10 HG00408.hp2
HG02080.hp1
NA18939.hp1
others(7): Show 
HG00408.hp2
HG02080.hp1
NA18939.hp1
NA18952.hp1
NA18962.hp2
NA18969.hp1
NA18977.hp2
NA18992.hp1
NA19054.hp1
NA19086.hp1
 intron_variant MODIFIER c.1138-948A>G
c.1138-948A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468385
chr6:52468411 G
G
 A
A
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1138-922G>A
c.1138-922G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468411
chr6:52468508 G
G
 A
A
 1 a0001c0001t0004g0232
a0001c0001t0004g0232
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1138-825G>A
c.1138-825G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468508
chr6:52468793 C
C
 G
G
 2 a0003c0003t0003g0085
a0003c0003t0003g0103
a0003c0003t0003g0085
a0003c0003t0003g0103
 2 NA18939.hp2
NA18991.hp1
NA18939.hp2
NA18991.hp1
 intron_variant MODIFIER c.1138-540C>G
c.1138-540C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468793
chr6:52468869 C
C
 T
T
 38 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(35): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 41 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(38): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-464C>T
c.1138-464C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52468869
chr6:52469039 AC
AC
 A
A
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1138-293delC
c.1138-293delC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52469039
chr6:52469277 T
T
 C
C
 2 a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0079
a0005c0005t0001g0080
 2 HG01516.hp2
HG01517.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.1138-56T>C
c.1138-56T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 6/10 chr6 52469277
chr6:52469535 A
A
 AT
AT
 2 a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0023
a0003c0003t0003g0024
 4 HG01070.hp1
HG01071.hp1
NA20752.hp1
others(1): Show 
HG01070.hp1
HG01071.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.1278+66dupT
c.1278+66dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 INFO_REALIGN_3_PRIME chr6 52469535
chr6:52469573 T
T
 C
C
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1278+100T>C
c.1278+100T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52469573
chr6:52469727 A
A
 T
T
 1 a0001c0001t0019g0106
a0001c0001t0019g0106
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1278+254A>T
c.1278+254A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52469727
chr6:52469729 A
A
 T
T
 1 a0001c0001t0019g0106
a0001c0001t0019g0106
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1278+256A>T
c.1278+256A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52469729
chr6:52469749 T
T
 A
A
 1 a0001c0001t0095g0197
a0001c0001t0095g0197
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1278+276T>A
c.1278+276T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52469749
chr6:52469852 T
T
 G
G
 1 a0001c0001t0002g0263
a0001c0001t0002g0263
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1278+379T>G
c.1278+379T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52469852
chr6:52469864 C
C
 T
T
 3 a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
 3 HG01884.hp1
HG02572.hp1
HG03579.hp2
HG01884.hp1
HG02572.hp1
HG03579.hp2
 intron_variant MODIFIER c.1278+391C>T
c.1278+391C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52469864
chr6:52469865 G
G
 A
A
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1278+392G>A
c.1278+392G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52469865
chr6:52470086 T
T
 A
A
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1278+613T>A
c.1278+613T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470086
chr6:52470230 C
C
 T
T
 33 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(30): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0091g0280
a0009c0009t0093g0278
 40 HG01192.hp1
HG02258.hp2
HG02451.hp1
others(37): Show 
HG01192.hp1
HG02258.hp2
HG02451.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1278+757C>T
c.1278+757C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470230
chr6:52470257 A
A
 G
G
 1 a0001c0010t0052g0207
a0001c0010t0052g0207
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1278+784A>G
c.1278+784A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470257
chr6:52470288 A
A
 G
G
 54 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(51): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 75 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.1278+815A>G
c.1278+815A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470288
chr6:52470294 AC
AC
 A
A
 3 a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
 3 HG01884.hp1
HG02572.hp1
HG03579.hp2
HG01884.hp1
HG02572.hp1
HG03579.hp2
 intron_variant MODIFIER c.1278+822delC
c.1278+822delC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470294
chr6:52470397 C
C
 T
T
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1278+924C>T
c.1278+924C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470397
chr6:52470450 G
G
 C
C
 1 a0001c0010t0052g0207
a0001c0010t0052g0207
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1278+977G>C
c.1278+977G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470450
chr6:52470594 T
T
 C
C
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1278+1121T>C
c.1278+1121T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470594
chr6:52470876 T
T
 G
G
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1278+1403T>G
c.1278+1403T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52470876
chr6:52471058 A
A
 G
G
 4 a0002c0002t0024g0009
a0002c0002t0027g0009
a0002c0002t0033g0009
others(1): Show 
a0002c0002t0024g0009
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0068g0009
 4 HG02257.hp2
HG02622.hp2
HG03130.hp1
others(1): Show 
HG02257.hp2
HG02622.hp2
HG03130.hp1
HG06807.hp2
 intron_variant MODIFIER c.1278+1585A>G
c.1278+1585A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471058
chr6:52471059 T
T
 C
C
 29 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(26): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
 36 HG01192.hp1
HG02723.hp2
HG02735.hp1
others(33): Show 
HG01192.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1278+1586T>C
c.1278+1586T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471059
chr6:52471059 T
T
 G
G
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1278+1586T>G
c.1278+1586T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471059
chr6:52471101 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1278+1628C>T
c.1278+1628C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471101
chr6:52471187 G
G
 A
A
 54 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(51): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 75 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.1278+1714G>A
c.1278+1714G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471187
chr6:52471355 C
C
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19089.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1278+1882C>G
c.1278+1882C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471355
chr6:52471512 T
T
 C
C
 105 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 135 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1278+2039T>C
c.1278+2039T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471512
chr6:52471531 A
A
 G
G
 1 a0001c0001t0031g0111
a0001c0001t0031g0111
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1278+2058A>G
c.1278+2058A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471531
chr6:52471563 G
G
 A
A
 105 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(102): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0087g0074
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 135 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(132): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1278+2090G>A
c.1278+2090G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471563
chr6:52471587 C
C
 T
T
 6 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
others(3): Show 
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0003c0003t0003g0099
a0003c0003t0003g0102
a0003c0003t0003g0105
 6 HG00642.hp1
HG00733.hp1
HG01175.hp2
others(3): Show 
HG00642.hp1
HG00733.hp1
HG01175.hp2
HG01934.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.1278+2114C>T
c.1278+2114C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471587
chr6:52471669 C
C
 T
T
 3 a0001c0001t0004g0224
a0001c0001t0047g0267
a0001c0001t0083g0274
a0001c0001t0004g0224
a0001c0001t0047g0267
a0001c0001t0083g0274
 3 HG01928.hp1
HG02896.hp1
HG03209.hp2
HG01928.hp1
HG02896.hp1
HG03209.hp2
 intron_variant MODIFIER c.1278+2196C>T
c.1278+2196C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471669
chr6:52471718 A
A
 G
G
 4 a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
others(1): Show 
a0001c0001t0007g0021
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0012g0021
 4 HG01515.hp2
HG01517.hp2
NA20905.hp1
others(1): Show 
HG01515.hp2
HG01517.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1278+2245A>G
c.1278+2245A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471718
chr6:52471880 A
A
 C
C
 2 a0001c0001t0007g0051
a0001c0001t0069g0058
a0001c0001t0007g0051
a0001c0001t0069g0058
 2 NA18991.hp2
NA18993.hp2
NA18991.hp2
NA18993.hp2
 intron_variant MODIFIER c.1278+2407A>C
c.1278+2407A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471880
chr6:52471917 A
A
 T
T
 12 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(9): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0087g0074
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
 13 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(10): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02145.hp1
HG02735.hp2
HG03654.hp2
HG03710.hp1
 intron_variant MODIFIER c.1278+2444A>T
c.1278+2444A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471917
chr6:52471919 T
T
 A
A
 1 a0001c0001t0065g0177
a0001c0001t0065g0177
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.1278+2446T>A
c.1278+2446T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471919
chr6:52471922 T
T
 A
A
 3 a0001c0001t0004g0233
a0001c0001t0004g0238
a0001c0001t0082g0234
a0001c0001t0004g0233
a0001c0001t0004g0238
a0001c0001t0082g0234
 3 HG01074.hp2
HG01123.hp1
HG02886.hp1
HG01074.hp2
HG01123.hp1
HG02886.hp1
 intron_variant MODIFIER c.1278+2449T>A
c.1278+2449T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471922
chr6:52471940 A
A
 G
G
 9 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(6): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0037g0149
a0002c0002t0058g0147
a0002c0002t0068g0009
a0002c0002t0071g0148
 9 HG00735.hp1
HG01099.hp1
HG02257.hp2
others(6): Show 
HG00735.hp1
HG01099.hp1
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG03130.hp1
HG06807.hp2
 intron_variant MODIFIER c.1278+2467A>G
c.1278+2467A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52471940
chr6:52472128 CTAAAA
CTAAAA
 C
C
 24 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(21): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1278+2661_1278+266
others(9): Show 
c.1278+2661_1278+2665delTAAAA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 INFO_REALIGN_3_PRIME chr6 52472128
chr6:52472505 C
C
 T
T
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1278+3032C>T
c.1278+3032C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52472505
chr6:52472539 A
A
 G
G
 1 a0001c0001t0049g0282
a0001c0001t0049g0282
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1278+3066A>G
c.1278+3066A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52472539
chr6:52472636 T
T
 TCATACAA
others(20): Show 
TCATACAAGAGATATGTAATATCTTTTA
 5 a0001c0001t0002g0226
a0001c0001t0002g0254
a0001c0001t0002g0255
others(2): Show 
a0001c0001t0002g0226
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0259
a0001c0001t0002g0262
 5 NA18612.hp2
NA18962.hp1
NA18973.hp1
others(2): Show 
NA18612.hp2
NA18962.hp1
NA18973.hp1
NA18993.hp1
NA19068.hp1
 intron_variant MODIFIER c.1278+3263_1278+328
others(31): Show 
c.1278+3263_1278+3289dupTATCTTTTACATACAAGAGATATGTA
A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 INFO_REALIGN_3_PRIME chr6 52472636
chr6:52472636 TCATACAA
others(20): Show 
TCATACAAGAGATATGTAATATCTTTTA
 T
T
 109 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(106): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0264
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0065g0177
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0092g0279
a0001c0001t0095g0197
a0001c0001t0099g0183
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0012c0015t0001g0028
 139 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(136): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18946.hp2
NA18949.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA19000.hp2
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19086.hp1
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1278+3263_1278+328
others(31): Show 
c.1278+3263_1278+3289delTATCTTTTACATACAAGAGATATGTA
A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 INFO_REALIGN_3_PRIME chr6 52472636
chr6:52472636 TCATACAA
others(47): Show 
TCATACAAGAGATATGTAATATCTTTTACATACAAGAGATATGTAATATC
TTTTA
 T
T
 29 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(26): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
 29 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(26): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1278+3236_1278+328
others(58): Show 
c.1278+3236_1278+3289delTATCTTTTACATACAAGAGATATGTA
ATATCTTTTACATACAAGAGATATGTAA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 INFO_REALIGN_3_PRIME chr6 52472636
chr6:52472755 A
A
 C
C
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1278+3282A>C
c.1278+3282A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52472755
chr6:52473299 C
C
 T
T
 241 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(238): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0087g0074
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0014t0002g0241
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 304 HG00099.hp1
HG00140.hp1
HG00408.hp2
others(301): Show 
HG00099.hp1
HG00140.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1278+3826C>T
c.1278+3826C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473299
chr6:52473412 T
T
 C
C
 1 a0001c0001t0042g0247
a0001c0001t0042g0247
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1278+3939T>C
c.1278+3939T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473412
chr6:52473508 C
C
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1278+4035C>T
c.1278+4035C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473508
chr6:52473655 G
G
 A
A
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.1278+4182G>A
c.1278+4182G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473655
chr6:52473724 G
G
 A
A
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1278+4251G>A
c.1278+4251G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473724
chr6:52473727 A
A
 G
G
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1278+4254A>G
c.1278+4254A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473727
chr6:52473918 A
A
 G
G
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1278+4445A>G
c.1278+4445A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473918
chr6:52473943 T
T
 A
A
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1278+4470T>A
c.1278+4470T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52473943
chr6:52474009 G
G
 A
A
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1278+4536G>A
c.1278+4536G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474009
chr6:52474087 C
C
 T
T
 1 a0001c0001t0005g0303
a0001c0001t0005g0303
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1278+4614C>T
c.1278+4614C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474087
chr6:52474119 A
A
 G
G
 1 a0004c0004t0008g0136
a0004c0004t0008g0136
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1278+4646A>G
c.1278+4646A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474119
chr6:52474145 G
G
 A
A
 1 a0001c0001t0022g0068
a0001c0001t0022g0068
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1278+4672G>A
c.1278+4672G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474145
chr6:52474346 C
C
 T
T
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1279-4691C>T
c.1279-4691C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474346
chr6:52474536 G
G
 A
A
 1 a0002c0002t0058g0147
a0002c0002t0058g0147
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1279-4501G>A
c.1279-4501G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474536
chr6:52474694 A
A
 G
G
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1279-4343A>G
c.1279-4343A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474694
chr6:52474829 C
C
 T
T
 1 a0001c0001t0030g0039
a0001c0001t0030g0039
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1279-4208C>T
c.1279-4208C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474829
chr6:52474883 G
G
 A
A
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1279-4154G>A
c.1279-4154G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52474883
chr6:52475008 G
G
 GT
GT
 58 a0001c0001t0001g0117
a0001c0001t0001g0168
a0001c0001t0001g0185
others(55): Show 
a0001c0001t0001g0117
a0001c0001t0001g0168
a0001c0001t0001g0185
a0001c0001t0002g0239
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0037g0088
a0001c0001t0089g0240
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0055g0214
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0004c0004t0008g0070
a0004c0004t0008g0125
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0008c0008t0014g0012
a0008c0008t0014g0095
 70 HG00544.hp2
HG00642.hp1
HG00733.hp1
others(67): Show 
HG00544.hp2
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp2
HG01934.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp2
HG04228.hp1
NA18906.hp1
NA18939.hp2
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18991.hp1
NA19000.hp2
NA19012.hp2
NA19054.hp2
NA19057.hp1
NA19068.hp2
NA19079.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1279-4017dupT
c.1279-4017dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 INFO_REALIGN_3_PRIME chr6 52475008
chr6:52475304 A
A
 C
C
 1 a0003c0003t0003g0097
a0003c0003t0003g0097
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1279-3733A>C
c.1279-3733A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475304
chr6:52475370 T
T
 A
A
 285 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(282): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0022g0068
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0037g0088
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0004
a0003c0003t0003g0023
a0003c0003t0003g0024
a0003c0003t0003g0072
a0003c0003t0003g0073
a0003c0003t0003g0084
a0003c0003t0003g0085
a0003c0003t0003g0097
a0003c0003t0003g0099
a0003c0003t0003g0101
a0003c0003t0003g0102
a0003c0003t0003g0103
a0003c0003t0003g0104
a0003c0003t0003g0105
a0003c0003t0003g0218
a0003c0003t0018g0004
a0003c0003t0018g0098
a0003c0003t0018g0100
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0011c0013t0004g0143
a0012c0015t0001g0028
 352 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(349): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.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
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279-3667T>A
c.1279-3667T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475370
chr6:52475370 T
T
 G
G
 1 a0001c0001t0009g0093
a0001c0001t0009g0093
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1279-3667T>G
c.1279-3667T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475370
chr6:52475378 T
T
 C
C
 40 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(37): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0009c0009t0091g0280
a0009c0009t0093g0278
 48 HG00438.hp1
HG01192.hp1
HG02129.hp2
others(45): Show 
HG00438.hp1
HG01192.hp1
HG02129.hp2
HG02258.hp2
HG02451.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03942.hp2
HG04115.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1279-3659T>C
c.1279-3659T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475378
chr6:52475493 G
G
 C
C
 1 a0001c0001t0009g0089
a0001c0001t0009g0089
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1279-3544G>C
c.1279-3544G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475493
chr6:52475561 G
G
 C
C
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1279-3476G>C
c.1279-3476G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475561
chr6:52475615 C
C
 T
T
 5 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
others(2): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
 6 HG02109.hp2
HG02486.hp2
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02486.hp2
HG02630.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1279-3422C>T
c.1279-3422C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475615
chr6:52475818 C
C
 T
T
 1 a0001c0001t0097g0288
a0001c0001t0097g0288
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.1279-3219C>T
c.1279-3219C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475818
chr6:52475837 C
C
 G
G
 9 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(6): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0037g0149
a0002c0002t0058g0147
a0002c0002t0068g0009
a0002c0002t0071g0148
 9 HG00735.hp1
HG01099.hp1
HG02257.hp2
others(6): Show 
HG00735.hp1
HG01099.hp1
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG03130.hp1
HG06807.hp2
 intron_variant MODIFIER c.1279-3200C>G
c.1279-3200C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475837
chr6:52475998 C
C
 T
T
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.1279-3039C>T
c.1279-3039C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52475998
chr6:52476156 G
G
 A
A
 29 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(26): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
 36 HG01192.hp1
HG02723.hp2
HG02735.hp1
others(33): Show 
HG01192.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1279-2881G>A
c.1279-2881G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476156
chr6:52476190 T
T
 C
C
 1 a0001c0001t0002g0243
a0001c0001t0002g0243
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1279-2847T>C
c.1279-2847T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476190
chr6:52476248 A
A
 C
C
 1 a0002c0002t0048g0307
a0002c0002t0048g0307
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1279-2789A>C
c.1279-2789A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476248
chr6:52476262 G
G
 T
T
 1 a0001c0001t0002g0273
a0001c0001t0002g0273
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1279-2775G>T
c.1279-2775G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476262
chr6:52476313 A
A
 C
C
 2 a0001c0001t0022g0068
a0001c0001t0085g0069
a0001c0001t0022g0068
a0001c0001t0085g0069
 2 HG01891.hp1
HG03139.hp1
HG01891.hp1
HG03139.hp1
 intron_variant MODIFIER c.1279-2724A>C
c.1279-2724A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476313
chr6:52476481 C
C
 T
T
 2 a0001c0001t0007g0051
a0001c0001t0069g0058
a0001c0001t0007g0051
a0001c0001t0069g0058
 2 NA18991.hp2
NA18993.hp2
NA18991.hp2
NA18993.hp2
 intron_variant MODIFIER c.1279-2556C>T
c.1279-2556C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476481
chr6:52476710 A
A
 G
G
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1279-2327A>G
c.1279-2327A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476710
chr6:52476722 C
C
 T
T
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1279-2315C>T
c.1279-2315C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476722
chr6:52476723 G
G
 A
A
 1 a0001c0001t0004g0224
a0001c0001t0004g0224
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1279-2314G>A
c.1279-2314G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52476723
chr6:52476757 ACTAT
ACTAT
 A
A
 37 a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
others(34): Show 
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0036g0205
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0059g0131
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0010c0012t0015g0013
 37 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(34): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02683.hp1
HG02698.hp2
HG03239.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.1279-2274_1279-227
others(8): Show 
c.1279-2274_1279-2271delTATC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 INFO_REALIGN_3_PRIME chr6 52476757
chr6:52477032 A
A
 T
T
 1 a0001c0001t0002g0249
a0001c0001t0002g0249
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.1279-2005A>T
c.1279-2005A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477032
chr6:52477058 T
T
 A
A
 5 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0055g0214
others(2): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
 5 HG02572.hp2
HG02630.hp1
HG02896.hp2
others(2): Show 
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
NA19240.hp1
 intron_variant MODIFIER c.1279-1979T>A
c.1279-1979T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477058
chr6:52477196 G
G
 A
A
 1 a0011c0013t0004g0143
a0011c0013t0004g0143
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1279-1841G>A
c.1279-1841G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477196
chr6:52477240 A
A
 G
G
 1 a0001c0001t0019g0106
a0001c0001t0019g0106
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1279-1797A>G
c.1279-1797A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477240
chr6:52477253 A
A
 G
G
 9 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(6): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0027g0092
a0001c0001t0037g0088
 11 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(8): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG03098.hp1
 intron_variant MODIFIER c.1279-1784A>G
c.1279-1784A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477253
chr6:52477352 T
T
 C
C
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1279-1685T>C
c.1279-1685T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477352
chr6:52477606 G
G
 A
A
 1 a0001c0001t0047g0267
a0001c0001t0047g0267
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1279-1431G>A
c.1279-1431G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477606
chr6:52477814 T
T
 G
G
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1279-1223T>G
c.1279-1223T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477814
chr6:52477846 A
A
 G
G
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279-1191A>G
c.1279-1191A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477846
chr6:52477859 T
T
 A
A
 1 a0001c0001t0020g0086
a0001c0001t0020g0086
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1279-1178T>A
c.1279-1178T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477859
chr6:52477934 C
C
 T
T
 87 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(84): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0085g0069
a0001c0001t0088g0056
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0010c0012t0015g0013
 91 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp1
NA18947.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18982.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19085.hp2
NA19087.hp1
NA19089.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279-1103C>T
c.1279-1103C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477934
chr6:52477935 G
G
 A
A
 1 a0001c0001t0082g0234
a0001c0001t0082g0234
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1279-1102G>A
c.1279-1102G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477935
chr6:52477949 T
T
 C
C
 1 a0001c0001t0062g0298
a0001c0001t0062g0298
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1279-1088T>C
c.1279-1088T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477949
chr6:52477989 C
C
 T
T
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279-1048C>T
c.1279-1048C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52477989
chr6:52478046 A
A
 G
G
 1 a0005c0005t0001g0082
a0005c0005t0001g0082
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1279-991A>G
c.1279-991A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52478046
chr6:52478169 G
G
 A
A
 3 a0001c0001t0004g0224
a0001c0001t0047g0267
a0001c0001t0083g0274
a0001c0001t0004g0224
a0001c0001t0047g0267
a0001c0001t0083g0274
 3 HG01928.hp1
HG02896.hp1
HG03209.hp2
HG01928.hp1
HG02896.hp1
HG03209.hp2
 intron_variant MODIFIER c.1279-868G>A
c.1279-868G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52478169
chr6:52478288 G
G
 C
C
 35 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(32): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 38 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(35): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1279-749G>C
c.1279-749G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52478288
chr6:52478872 G
G
 A
A
 1 a0001c0001t0012g0059
a0001c0001t0012g0059
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1279-165G>A
c.1279-165G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52478872
chr6:52479028 C
C
 T
T
 1 a0001c0001t0022g0068
a0001c0001t0022g0068
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1279-9C>T
c.1279-9C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 7/10 chr6 52479028
chr6:52479424 CTT
CTT
 C
C
 12 a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
others(9): Show 
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0087g0074
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
 13 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(10): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02145.hp1
HG02735.hp2
HG03654.hp2
HG03710.hp1
 intron_variant MODIFIER c.1492+175_1492+176d
others(4): Show 
c.1492+175_1492+176delTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 8/10 chr6 52479424
chr6:52479864 A
A
 C
C
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1640+77A>C
c.1640+77A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52479864
chr6:52480085 A
A
 G
G
 1 a0003c0003t0003g0072
a0003c0003t0003g0072
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.1640+298A>G
c.1640+298A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480085
chr6:52480383 G
G
 A
A
 2 a0001c0001t0001g0175
a0001c0001t0065g0177
a0001c0001t0001g0175
a0001c0001t0065g0177
 2 NA18946.hp2
NA19089.hp2
NA18946.hp2
NA19089.hp2
 intron_variant MODIFIER c.1640+596G>A
c.1640+596G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480383
chr6:52480684 G
G
 A
A
 1 a0004c0004t0077g0123
a0004c0004t0077g0123
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1640+897G>A
c.1640+897G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480684
chr6:52480698 G
G
 C
C
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1640+911G>C
c.1640+911G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480698
chr6:52480728 A
A
 G
G
 9 a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
others(6): Show 
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
 9 HG01069.hp2
HG02280.hp2
HG02572.hp2
others(6): Show 
HG01069.hp2
HG02280.hp2
HG02572.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1640+941A>G
c.1640+941A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480728
chr6:52480740 G
G
 A
A
 3 a0001c0001t0004g0224
a0001c0001t0047g0267
a0001c0001t0083g0274
a0001c0001t0004g0224
a0001c0001t0047g0267
a0001c0001t0083g0274
 3 HG01928.hp1
HG02896.hp1
HG03209.hp2
HG01928.hp1
HG02896.hp1
HG03209.hp2
 intron_variant MODIFIER c.1640+953G>A
c.1640+953G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480740
chr6:52480815 G
G
 A
A
 260 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(257): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0070g0135
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 314 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(311): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1640+1028G>A
c.1640+1028G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480815
chr6:52480919 T
T
 TA
TA
 23 a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
others(20): Show 
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0010c0012t0015g0013
 23 HG00280.hp1
HG00408.hp1
HG00544.hp1
others(20): Show 
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG01496.hp2
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02698.hp2
HG04184.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.1640+1132_1640+113
others(5): Show 
c.1640+1132_1640+1133insA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480919
chr6:52480959 A
A
 C
C
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1640+1172A>C
c.1640+1172A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52480959
chr6:52481233 A
A
 G
G
 1 a0004c0004t0008g0124
a0004c0004t0008g0124
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.1640+1446A>G
c.1640+1446A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481233
chr6:52481342 T
T
 A
A
 3 a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
 3 HG01891.hp2
HG02717.hp1
HG02895.hp2
HG01891.hp2
HG02717.hp1
HG02895.hp2
 intron_variant MODIFIER c.1640+1555T>A
c.1640+1555T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481342
chr6:52481366 T
T
 C
C
 1 a0001c0001t0002g0225
a0001c0001t0002g0225
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.1640+1579T>C
c.1640+1579T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481366
chr6:52481491 G
G
 C
C
 2 a0001c0001t0006g0287
a0001c0001t0045g0286
a0001c0001t0006g0287
a0001c0001t0045g0286
 2 NA18944.hp1
NA18953.hp2
NA18944.hp1
NA18953.hp2
 intron_variant MODIFIER c.1640+1704G>C
c.1640+1704G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481491
chr6:52481504 A
A
 ATC
ATC
 51 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
others(48): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0176
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0007g0053
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0060g0055
a0001c0001t0087g0074
a0001c0001t0099g0183
a0002c0002t0080g0210
a0004c0004t0075g0121
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0012c0015t0001g0028
 58 HG00280.hp2
HG00408.hp2
HG00558.hp1
others(55): Show 
HG00280.hp2
HG00408.hp2
HG00558.hp1
HG01069.hp2
HG01074.hp1
HG01106.hp2
HG01168.hp2
HG01175.hp1
HG01884.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02155.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG03017.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18952.hp1
NA18956.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19081.hp2
NA19085.hp2
NA19086.hp1
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.1640+1752_1640+175
others(6): Show 
c.1640+1752_1640+1753dupTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTC
ATCTC
 16 a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0189
others(13): Show 
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0189
a0001c0001t0001g0203
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0055g0214
a0002c0002t0064g0213
a0005c0005t0001g0022
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0011c0013t0004g0143
 17 HG00140.hp1
HG00642.hp2
HG01081.hp2
others(14): Show 
HG00140.hp1
HG00642.hp2
HG01081.hp2
HG01167.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG02145.hp1
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG02896.hp2
HG02897.hp2
HG03453.hp1
HG03654.hp2
NA18959.hp2
 intron_variant MODIFIER c.1640+1750_1640+175
others(8): Show 
c.1640+1750_1640+1753dupTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTCTC
ATCTCTC
 3 a0001c0001t0001g0153
a0001c0001t0001g0157
a0002c0002t0067g0215
a0001c0001t0001g0153
a0001c0001t0001g0157
a0002c0002t0067g0215
 3 NA18992.hp1
NA19240.hp1
NA20805.hp1
NA18992.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.1640+1748_1640+175
others(10): Show 
c.1640+1748_1640+1753dupTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTCTCT
others(1): Show 
ATCTCTCTC
 4 a0001c0001t0011g0050
a0002c0002t0053g0209
a0002c0002t0078g0211
others(1): Show 
a0001c0001t0011g0050
a0002c0002t0053g0209
a0002c0002t0078g0211
a0002c0002t0079g0212
 4 HG02280.hp2
HG02965.hp1
HG03834.hp1
others(1): Show 
HG02280.hp2
HG02965.hp1
HG03834.hp1
NA21309.hp2
 intron_variant MODIFIER c.1640+1746_1640+175
others(12): Show 
c.1640+1746_1640+1753dupTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTCTCT
others(3): Show 
ATCTCTCTCTC
 4 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0043g0145
others(1): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0043g0145
a0002c0002t0090g0114
 4 HG02922.hp2
HG03041.hp1
HG03195.hp1
others(1): Show 
HG02922.hp2
HG03041.hp1
HG03195.hp1
HG03579.hp1
 intron_variant MODIFIER c.1640+1744_1640+175
others(14): Show 
c.1640+1744_1640+1753dupTCTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTCTCT
others(5): Show 
ATCTCTCTCTCTC
 1 a0002c0002t0048g0307
a0002c0002t0048g0307
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1640+1742_1640+175
others(16): Show 
c.1640+1742_1640+1753dupTCTCTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTCTCT
others(7): Show 
ATCTCTCTCTCTCTC
 1 a0002c0002t0063g0141
a0002c0002t0063g0141
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1640+1740_1640+175
others(18): Show 
c.1640+1740_1640+1753dupTCTCTCTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTCTCT
others(9): Show 
ATCTCTCTCTCTCTCTC
 1 a0004c0004t0008g0066
a0004c0004t0008g0066
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1640+1738_1640+175
others(20): Show 
c.1640+1738_1640+1753dupTCTCTCTCTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 A
A
 ATCTCTCT
others(13): Show 
ATCTCTCTCTCTCTCTCTCTC
 2 a0004c0004t0008g0124
a0004c0004t0084g0137
a0004c0004t0008g0124
a0004c0004t0084g0137
 2 NA18987.hp2
NA19083.hp2
NA18987.hp2
NA19083.hp2
 intron_variant MODIFIER c.1640+1734_1640+175
others(24): Show 
c.1640+1734_1640+1753dupTCTCTCTCTCTCTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 ATC
ATC
 A
A
 11 a0001c0001t0007g0041
a0001c0001t0011g0062
a0001c0001t0011g0063
others(8): Show 
a0001c0001t0007g0041
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0016g0138
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0088g0056
a0002c0002t0043g0144
a0009c0009t0091g0280
a0009c0009t0093g0278
 12 HG01175.hp2
HG01255.hp2
HG01257.hp2
others(9): Show 
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG02451.hp1
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.1640+1752_1640+175
others(6): Show 
c.1640+1752_1640+1753delTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 ATCTC
ATCTC
 A
A
 60 a0001c0001t0001g0001
a0001c0001t0001g0115
a0001c0001t0001g0165
others(57): Show 
a0001c0001t0001g0001
a0001c0001t0001g0115
a0001c0001t0001g0165
a0001c0001t0001g0172
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0016g0139
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0062g0298
a0001c0001t0092g0279
a0001c0001t0095g0197
a0001c0010t0050g0204
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0037g0149
a0002c0002t0058g0147
a0002c0002t0068g0009
a0002c0002t0086g0071
a0004c0004t0008g0070
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0077g0123
a0004c0004t0081g0133
a0008c0008t0014g0012
a0008c0008t0014g0095
a0010c0012t0015g0013
 75 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(72): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00438.hp1
HG00544.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp2
HG01243.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02129.hp2
HG02148.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03516.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18940.hp1
NA18941.hp1
NA18946.hp1
NA18946.hp2
NA18966.hp1
NA18971.hp2
NA18972.hp1
NA18973.hp2
NA18982.hp1
NA19011.hp2
NA19055.hp2
NA19056.hp1
NA19068.hp2
NA19079.hp2
NA19087.hp1
NA20129.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.1640+1750_1640+175
others(8): Show 
c.1640+1750_1640+1753delTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 ATCTCTC
ATCTCTC
 A
A
 47 a0001c0001t0002g0272
a0001c0001t0005g0003
a0001c0001t0005g0006
others(44): Show 
a0001c0001t0002g0272
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0022g0068
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0038g0221
a0001c0001t0041g0220
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0049g0282
a0001c0001t0070g0135
a0001c0001t0085g0069
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0010t0001g0206
a0001c0010t0052g0207
a0002c0002t0071g0148
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0051g0162
 55 HG01192.hp1
HG01891.hp1
HG01891.hp2
others(52): Show 
HG01192.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp2
HG02451.hp2
HG02486.hp2
HG02615.hp2
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02886.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
NA18747.hp1
NA18906.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1640+1748_1640+175
others(10): Show 
c.1640+1748_1640+1753delTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 ATCTCTCT
others(1): Show 
ATCTCTCTC
 A
A
 69 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(66): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
a0005c0005t0001g0076
a0009c0009t0046g0281
 94 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(91): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01255.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.1640+1746_1640+175
others(12): Show 
c.1640+1746_1640+1753delTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481504 ATCTCTCT
others(5): Show 
ATCTCTCTCTCTC
 A
A
 1 a0001c0001t0007g0047
a0001c0001t0007g0047
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1640+1742_1640+175
others(16): Show 
c.1640+1742_1640+1753delTCTCTCTCTCTC
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52481504
chr6:52481708 C
C
 T
T
 22 a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
others(19): Show 
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0055g0214
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 22 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(19): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1640+1921C>T
c.1640+1921C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481708
chr6:52481790 C
C
 T
T
 21 a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
others(18): Show 
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0011c0013t0004g0143
 21 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(18): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03453.hp1
HG06807.hp1
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.1640+2003C>T
c.1640+2003C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481790
chr6:52481814 G
G
 A
A
 43 a0001c0001t0002g0263
a0001c0001t0008g0026
a0001c0001t0010g0026
others(40): Show 
a0001c0001t0002g0263
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0059g0131
a0001c0001t0070g0135
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0010c0012t0015g0013
 43 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(40): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.1640+2027G>A
c.1640+2027G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481814
chr6:52481918 C
C
 T
T
 1 a0001c0001t0032g0300
a0001c0001t0032g0300
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1640+2131C>T
c.1640+2131C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52481918
chr6:52482194 T
T
 A
A
 196 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(193): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
 233 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(230): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02258.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1640+2407T>A
c.1640+2407T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482194
chr6:52482215 G
G
 C
C
 295 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(292): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 352 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(349): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.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
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1640+2428G>C
c.1640+2428G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482215
chr6:52482271 A
A
 G
G
 29 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(26): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
 36 HG01192.hp1
HG02723.hp2
HG02735.hp1
others(33): Show 
HG01192.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1640+2484A>G
c.1640+2484A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482271
chr6:52482322 G
G
 A
A
 1 a0003c0003t0018g0100
a0003c0003t0018g0100
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1640+2535G>A
c.1640+2535G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482322
chr6:52482333 T
T
 C
C
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.1640+2546T>C
c.1640+2546T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482333
chr6:52482337 C
C
 T
T
 16 a0001c0001t0002g0017
a0001c0001t0002g0226
a0001c0001t0002g0227
others(13): Show 
a0001c0001t0002g0017
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0248
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0262
a0001c0001t0002g0265
a0001c0001t0042g0247
a0001c0001t0098g0017
a0001c0014t0002g0241
a0002c0002t0058g0147
 17 HG00099.hp1
HG00738.hp1
HG01070.hp2
others(14): Show 
HG00099.hp1
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG02559.hp2
HG04199.hp2
NA18612.hp2
NA18962.hp1
NA18966.hp2
NA18973.hp1
NA18993.hp1
NA19003.hp2
NA19004.hp2
NA19007.hp1
NA19007.hp2
NA19068.hp1
NA19083.hp1
 intron_variant MODIFIER c.1640+2550C>T
c.1640+2550C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482337
chr6:52482342 C
C
 CA
CA
 55 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(52): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
a0002c0002t0024g0142
a0002c0002t0063g0141
 76 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(73): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02970.hp1
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.1640+2569dupA
c.1640+2569dupA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52482342
chr6:52482342 CA
CA
 C
C
 11 a0001c0001t0001g0151
a0001c0001t0001g0175
a0001c0001t0001g0176
others(8): Show 
a0001c0001t0001g0151
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0202
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0232
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0011g0063
a0002c0002t0078g0211
 15 HG01255.hp1
HG02055.hp1
HG02809.hp1
others(12): Show 
HG01255.hp1
HG02055.hp1
HG02809.hp1
HG02895.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03453.hp2
NA18946.hp2
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.1640+2569delA
c.1640+2569delA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52482342
chr6:52482381 T
T
 C
C
 1 a0004c0004t0077g0123
a0004c0004t0077g0123
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1640+2594T>C
c.1640+2594T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482381
chr6:52482465 ATAAT
ATAAT
 A
A
 11 a0001c0001t0007g0053
a0001c0001t0029g0108
a0001c0001t0029g0120
others(8): Show 
a0001c0001t0007g0053
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0062g0298
 12 HG00280.hp2
HG00438.hp1
HG01069.hp1
others(9): Show 
HG00280.hp2
HG00438.hp1
HG01069.hp1
HG01071.hp2
HG02129.hp2
HG02300.hp1
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1640+2682_1640+268
others(8): Show 
c.1640+2682_1640+2685delTTAA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52482465
chr6:52482474 G
G
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 2 NA18952.hp1
NA19054.hp1
NA18952.hp1
NA19054.hp1
 intron_variant MODIFIER c.1640+2687G>C
c.1640+2687G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482474
chr6:52482815 A
A
 G
G
 1 a0006c0006t0017g0195
a0006c0006t0017g0195
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1640+3028A>G
c.1640+3028A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482815
chr6:52482926 T
T
 C
C
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1640+3139T>C
c.1640+3139T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482926
chr6:52482959 T
T
 C
C
 42 a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
others(39): Show 
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0059g0131
a0001c0001t0070g0135
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0010c0012t0015g0013
 42 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(39): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp2
HG00738.hp2
HG01069.hp1
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG02074.hp2
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18941.hp1
NA18946.hp1
NA18971.hp2
NA18973.hp2
NA18982.hp1
NA18987.hp2
NA19043.hp1
NA19056.hp1
NA19068.hp2
NA19083.hp2
NA19087.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.1640+3172T>C
c.1640+3172T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52482959
chr6:52483154 C
C
 T
T
 1 a0001c0001t0028g0020
a0001c0001t0028g0020
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.1640+3367C>T
c.1640+3367C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483154
chr6:52483257 T
T
 C
C
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1640+3470T>C
c.1640+3470T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483257
chr6:52483352 A
A
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0022g0068
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1640+3565A>G
c.1640+3565A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483352
chr6:52483364 G
G
 A
A
 1 a0003c0003t0003g0101
a0003c0003t0003g0101
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1640+3577G>A
c.1640+3577G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483364
chr6:52483401 C
C
 T
T
 72 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0022g0068
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0087g0074
a0001c0001t0099g0183
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0012c0015t0001g0028
 92 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(89): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1640+3614C>T
c.1640+3614C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483401
chr6:52483506 T
T
 A
A
 1 a0001c0001t0004g0224
a0001c0001t0004g0224
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1640+3719T>A
c.1640+3719T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483506
chr6:52483590 G
G
 A
A
 1 a0002c0002t0024g0142
a0002c0002t0024g0142
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1640+3803G>A
c.1640+3803G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483590
chr6:52483635 G
G
 C
C
 1 a0002c0002t0033g0146
a0002c0002t0033g0146
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1640+3848G>C
c.1640+3848G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483635
chr6:52483657 G
G
 A
A
 27 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
others(24): Show 
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0011c0013t0004g0143
 27 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(24): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1640+3870G>A
c.1640+3870G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483657
chr6:52483720 A
A
 G
G
 1 a0001c0001t0002g0225
a0001c0001t0002g0225
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.1640+3933A>G
c.1640+3933A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483720
chr6:52483723 T
T
 C
C
 2 a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0091g0280
a0009c0009t0093g0278
 2 HG02451.hp1
HG03516.hp1
HG02451.hp1
HG03516.hp1
 intron_variant MODIFIER c.1640+3936T>C
c.1640+3936T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52483723
chr6:52484003 G
G
 A
A
 1 a0001c0001t0002g0249
a0001c0001t0002g0249
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.1640+4216G>A
c.1640+4216G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52484003
chr6:52484044 G
G
 T
T
 1 a0001c0001t0002g0244
a0001c0001t0002g0244
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1640+4257G>T
c.1640+4257G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52484044
chr6:52484468 A
A
 G
G
 4 a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0238
others(1): Show 
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0238
a0001c0001t0082g0234
 4 HG01074.hp2
HG01123.hp1
HG02886.hp1
others(1): Show 
HG01074.hp2
HG01123.hp1
HG02886.hp1
HG02970.hp2
 intron_variant MODIFIER c.1640+4681A>G
c.1640+4681A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52484468
chr6:52484846 A
A
 C
C
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1640+5059A>C
c.1640+5059A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52484846
chr6:52484887 C
C
 G
G
 1 a0003c0003t0003g0097
a0003c0003t0003g0097
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1640+5100C>G
c.1640+5100C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52484887
chr6:52485024 C
C
 G
G
 297 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(294): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0008c0008t0014g0012
a0008c0008t0014g0095
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 356 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(353): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.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
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1641-5116C>G
c.1641-5116C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52485024
chr6:52485100 A
A
 G
G
 2 a0009c0009t0091g0280
a0009c0009t0093g0278
a0009c0009t0091g0280
a0009c0009t0093g0278
 2 HG02451.hp1
HG03516.hp1
HG02451.hp1
HG03516.hp1
 intron_variant MODIFIER c.1641-5040A>G
c.1641-5040A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52485100
chr6:52485396 A
A
 G
G
 2 a0001c0001t0002g0226
a0001c0001t0002g0248
a0001c0001t0002g0226
a0001c0001t0002g0248
 2 NA18962.hp1
NA18966.hp2
NA18962.hp1
NA18966.hp2
 intron_variant MODIFIER c.1641-4744A>G
c.1641-4744A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52485396
chr6:52485446 G
G
 GGATATGG
others(30): Show 
GGATATGGTTTGTTTGGCCCCAGCAAGCTATGGTTTTA
 1 a0001c0001t0057g0299
a0001c0001t0057g0299
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1641-4672_1641-463
others(41): Show 
c.1641-4672_1641-4636dupGCAAGCTATGGTTTTAGATATGGTTT
GTTTGGCCCCA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52485446
chr6:52485446 GGATATGG
others(30): Show 
GGATATGGTTTGTTTGGCCCCAGCAAGCTATGGTTTTA
 G
G
 2 a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0010t0050g0204
a0001c0010t0052g0207
 2 HG01891.hp2
HG02717.hp1
HG01891.hp2
HG02717.hp1
 intron_variant MODIFIER c.1641-4672_1641-463
others(41): Show 
c.1641-4672_1641-4636delGCAAGCTATGGTTTTAGATATGGTTT
GTTTGGCCCCA
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52485446
chr6:52485759 C
C
 G
G
 15 a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
others(12): Show 
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0047g0267
a0001c0001t0082g0234
a0001c0001t0083g0274
a0011c0013t0004g0143
 19 HG01074.hp2
HG01123.hp1
HG01255.hp1
others(16): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp1
HG01928.hp1
HG02055.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03540.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.1641-4381C>G
c.1641-4381C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52485759
chr6:52485964 T
T
 A
A
 1 a0001c0001t0030g0048
a0001c0001t0030g0048
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1641-4176T>A
c.1641-4176T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52485964
chr6:52486001 C
C
 T
T
 55 a0001c0001t0001g0075
a0001c0001t0002g0002
a0001c0001t0002g0015
others(52): Show 
a0001c0001t0001g0075
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0089g0240
a0001c0001t0098g0017
a0001c0014t0002g0241
 76 HG00099.hp1
HG00438.hp2
HG00544.hp2
others(73): Show 
HG00099.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02602.hp1
HG02735.hp2
HG03017.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp2
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18957.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18993.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
 intron_variant MODIFIER c.1641-4139C>T
c.1641-4139C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486001
chr6:52486055 T
T
 C
C
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.1641-4085T>C
c.1641-4085T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486055
chr6:52486056 C
C
 G
G
 1 a0002c0002t0090g0114
a0002c0002t0090g0114
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1641-4084C>G
c.1641-4084C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486056
chr6:52486056 C
C
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.1641-4084C>T
c.1641-4084C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486056
chr6:52486121 C
C
 G
G
 1 a0001c0001t0007g0047
a0001c0001t0007g0047
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1641-4019C>G
c.1641-4019C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486121
chr6:52486174 T
T
 C
C
 1 a0001c0001t0002g0246
a0001c0001t0002g0246
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.1641-3966T>C
c.1641-3966T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486174
chr6:52486364 A
A
 G
G
 2 a0001c0001t0001g0027
a0001c0001t0001g0184
a0001c0001t0001g0027
a0001c0001t0001g0184
 3 HG02080.hp1
NA18952.hp1
NA19054.hp1
HG02080.hp1
NA18952.hp1
NA19054.hp1
 intron_variant MODIFIER c.1641-3776A>G
c.1641-3776A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486364
chr6:52486409 A
A
 G
G
 1 a0001c0001t0057g0299
a0001c0001t0057g0299
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1641-3731A>G
c.1641-3731A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486409
chr6:52486637 T
T
 G
G
 1 a0001c0001t0004g0236
a0001c0001t0004g0236
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1641-3503T>G
c.1641-3503T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486637
chr6:52486646 G
G
 A
A
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1641-3494G>A
c.1641-3494G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486646
chr6:52486805 C
C
 T
T
 73 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0022g0068
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0087g0074
a0001c0001t0099g0183
a0001c0010t0001g0206
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0012c0015t0001g0028
 93 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(90): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1641-3335C>T
c.1641-3335C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52486805
chr6:52487011 AT
AT
 A
A
 9 a0001c0001t0002g0265
a0001c0001t0032g0297
a0001c0001t0032g0300
others(6): Show 
a0001c0001t0002g0265
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
 10 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(7): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19003.hp2
NA19011.hp2
NA19089.hp1
NA19089.hp2
 intron_variant MODIFIER c.1641-3116delT
c.1641-3116delT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52487011
chr6:52487104 C
C
 G
G
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1641-3036C>G
c.1641-3036C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52487104
chr6:52487379 G
G
 A
A
 2 a0001c0001t0009g0093
a0001c0001t0019g0106
a0001c0001t0009g0093
a0001c0001t0019g0106
 2 HG02486.hp1
HG02818.hp2
HG02486.hp1
HG02818.hp2
 intron_variant MODIFIER c.1641-2761G>A
c.1641-2761G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52487379
chr6:52487549 T
T
 G
G
 1 a0007c0007t0001g0160
a0007c0007t0001g0160
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1641-2591T>G
c.1641-2591T>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52487549
chr6:52487550 G
G
 A
A
 1 a0007c0007t0001g0160
a0007c0007t0001g0160
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1641-2590G>A
c.1641-2590G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52487550
chr6:52487556 A
A
 G
G
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1641-2584A>G
c.1641-2584A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52487556
chr6:52487570 C
C
 CT
CT
 10 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(7): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
 12 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(9): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
NA19240.hp2
 intron_variant MODIFIER c.1641-2567dupT
c.1641-2567dupT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 INFO_REALIGN_3_PRIME chr6 52487570
chr6:52488073 G
G
 C
C
 1 a0008c0008t0014g0012
a0008c0008t0014g0012
 3 HG01243.hp1
HG03209.hp1
HG03225.hp1
HG01243.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.1641-2067G>C
c.1641-2067G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52488073
chr6:52488077 G
G
 A
A
 1 a0002c0002t0024g0142
a0002c0002t0024g0142
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1641-2063G>A
c.1641-2063G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52488077
chr6:52488316 A
A
 G
G
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1641-1824A>G
c.1641-1824A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52488316
chr6:52488473 A
A
 G
G
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1641-1667A>G
c.1641-1667A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52488473
chr6:52488643 A
A
 C
C
 1 a0001c0001t0006g0287
a0001c0001t0006g0287
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.1641-1497A>C
c.1641-1497A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52488643
chr6:52488847 T
T
 C
C
 4 a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0259
others(1): Show 
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0259
a0001c0001t0002g0262
 4 NA18612.hp2
NA18973.hp1
NA18993.hp1
others(1): Show 
NA18612.hp2
NA18973.hp1
NA18993.hp1
NA19068.hp1
 intron_variant MODIFIER c.1641-1293T>C
c.1641-1293T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52488847
chr6:52489262 G
G
 A
A
 29 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(26): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
 36 HG01192.hp1
HG02723.hp2
HG02735.hp1
others(33): Show 
HG01192.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1641-878G>A
c.1641-878G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489262
chr6:52489327 C
C
 T
T
 1 a0007c0007t0001g0163
a0007c0007t0001g0163
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1641-813C>T
c.1641-813C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489327
chr6:52489329 G
G
 T
T
 3 a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0090g0114
 3 HG01175.hp2
HG02922.hp2
HG03579.hp1
HG01175.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.1641-811G>T
c.1641-811G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489329
chr6:52489342 G
G
 A
A
 29 a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
others(26): Show 
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0094g0295
a0001c0001t0096g0003
a0001c0001t0097g0288
 36 HG01192.hp1
HG02723.hp2
HG02735.hp1
others(33): Show 
HG01192.hp1
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03491.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp2
NA18974.hp2
NA18981.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19078.hp1
NA19080.hp2
NA19082.hp2
NA19091.hp2
 intron_variant MODIFIER c.1641-798G>A
c.1641-798G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489342
chr6:52489380 C
C
 G
G
 299 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(296): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0022g0068
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0070g0135
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0087g0074
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0001t0099g0183
a0001c0010t0001g0206
a0001c0010t0050g0204
a0001c0010t0052g0207
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0105
a0003c0003t0022g0219
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0007c0007t0051g0162
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
a0012c0015t0001g0028
 356 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(353): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.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
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18987.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1641-760C>G
c.1641-760C>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489380
chr6:52489612 A
A
 G
G
 2 a0008c0008t0014g0012
a0008c0008t0014g0095
a0008c0008t0014g0012
a0008c0008t0014g0095
 4 HG01243.hp1
HG02615.hp1
HG03209.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.1641-528A>G
c.1641-528A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489612
chr6:52489801 T
T
 A
A
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1641-339T>A
c.1641-339T>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489801
chr6:52489905 G
G
 A
A
 1 a0001c0001t0002g0265
a0001c0001t0002g0265
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.1641-235G>A
c.1641-235G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 9/10 chr6 52489905
chr6:52490408 T
T
 C
C
 225 a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
others(222): Show 
a0001c0001t0002g0002
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0222
a0001c0001t0002g0225
a0001c0001t0002g0226
a0001c0001t0002g0227
a0001c0001t0002g0228
a0001c0001t0002g0229
a0001c0001t0002g0230
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0250
a0001c0001t0002g0251
a0001c0001t0002g0252
a0001c0001t0002g0253
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0265
a0001c0001t0002g0266
a0001c0001t0002g0268
a0001c0001t0002g0269
a0001c0001t0002g0270
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0004g0005
a0001c0001t0004g0223
a0001c0001t0004g0224
a0001c0001t0004g0232
a0001c0001t0004g0233
a0001c0001t0004g0235
a0001c0001t0004g0236
a0001c0001t0004g0237
a0001c0001t0004g0238
a0001c0001t0004g0275
a0001c0001t0004g0276
a0001c0001t0005g0003
a0001c0001t0005g0006
a0001c0001t0005g0035
a0001c0001t0005g0283
a0001c0001t0005g0292
a0001c0001t0005g0293
a0001c0001t0005g0296
a0001c0001t0005g0302
a0001c0001t0005g0303
a0001c0001t0005g0304
a0001c0001t0006g0003
a0001c0001t0006g0006
a0001c0001t0006g0034
a0001c0001t0006g0035
a0001c0001t0006g0036
a0001c0001t0006g0067
a0001c0001t0006g0284
a0001c0001t0006g0285
a0001c0001t0006g0287
a0001c0001t0006g0289
a0001c0001t0006g0290
a0001c0001t0006g0294
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0008g0026
a0001c0001t0010g0026
a0001c0001t0010g0112
a0001c0001t0010g0129
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0016g0138
a0001c0001t0016g0139
a0001c0001t0023g0122
a0001c0001t0025g0110
a0001c0001t0027g0092
a0001c0001t0028g0020
a0001c0001t0029g0108
a0001c0001t0029g0120
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0031g0111
a0001c0001t0031g0134
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0036g0205
a0001c0001t0037g0088
a0001c0001t0038g0221
a0001c0001t0039g0187
a0001c0001t0039g0198
a0001c0001t0040g0130
a0001c0001t0040g0132
a0001c0001t0041g0220
a0001c0001t0042g0002
a0001c0001t0042g0247
a0001c0001t0044g0034
a0001c0001t0044g0291
a0001c0001t0045g0006
a0001c0001t0045g0286
a0001c0001t0047g0267
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0059g0131
a0001c0001t0060g0055
a0001c0001t0062g0298
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0082g0234
a0001c0001t0083g0274
a0001c0001t0085g0069
a0001c0001t0088g0056
a0001c0001t0089g0240
a0001c0001t0092g0279
a0001c0001t0094g0295
a0001c0001t0095g0197
a0001c0001t0096g0003
a0001c0001t0097g0288
a0001c0001t0098g0017
a0001c0011t0011g0019
a0001c0014t0002g0241
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0048g0307
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0086g0071
a0002c0002t0090g0114
a0003c0003t0003g0105
a0004c0004t0008g0066
a0004c0004t0008g0070
a0004c0004t0008g0124
a0004c0004t0008g0125
a0004c0004t0008g0136
a0004c0004t0010g0113
a0004c0004t0010g0126
a0004c0004t0015g0109
a0004c0004t0015g0127
a0004c0004t0016g0192
a0004c0004t0023g0013
a0004c0004t0025g0025
a0004c0004t0026g0013
a0004c0004t0026g0140
a0004c0004t0036g0128
a0004c0004t0038g0217
a0004c0004t0041g0119
a0004c0004t0061g0025
a0004c0004t0075g0121
a0004c0004t0077g0123
a0004c0004t0081g0133
a0004c0004t0084g0137
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0056g0196
a0006c0006t0072g0194
a0006c0006t0073g0014
a0007c0007t0051g0162
a0009c0009t0046g0281
a0009c0009t0091g0280
a0009c0009t0093g0278
a0010c0012t0015g0013
a0011c0013t0004g0143
 262 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(259): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp1
NA18987.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA19000.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1851+58T>C
c.1851+58T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490408
chr6:52490576 A
A
 G
G
 7 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(4): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0049g0282
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 8 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(5): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03239.hp1
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1851+226A>G
c.1851+226A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490576
chr6:52490629 C
C
 T
T
 9 a0001c0001t0027g0092
a0001c0001t0037g0088
a0002c0002t0024g0009
others(6): Show 
a0001c0001t0027g0092
a0001c0001t0037g0088
a0002c0002t0024g0009
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0058g0147
a0002c0002t0068g0009
a0002c0002t0071g0148
 9 HG01099.hp1
HG02109.hp1
HG02145.hp2
others(6): Show 
HG01099.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG03130.hp1
HG06807.hp2
 intron_variant MODIFIER c.1851+279C>T
c.1851+279C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490629
chr6:52490632 T
T
 C
C
 1 a0009c0009t0046g0281
a0009c0009t0046g0281
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1851+282T>C
c.1851+282T>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490632
chr6:52490639 G
G
 A
A
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1851+289G>A
c.1851+289G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490639
chr6:52490664 A
A
 G
G
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1851+314A>G
c.1851+314A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490664
chr6:52490730 G
G
 A
A
 2 a0001c0001t0002g0270
a0001c0001t0002g0272
a0001c0001t0002g0270
a0001c0001t0002g0272
 2 HG03491.hp1
HG04204.hp1
HG03491.hp1
HG04204.hp1
 intron_variant MODIFIER c.1851+380G>A
c.1851+380G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490730
chr6:52490771 C
C
 A
A
 69 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
others(66): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0028
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0193
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0022g0068
a0001c0001t0087g0074
a0001c0001t0099g0183
a0001c0010t0001g0206
a0003c0003t0022g0219
a0005c0005t0001g0022
a0005c0005t0001g0076
a0005c0005t0001g0079
a0005c0005t0001g0080
a0005c0005t0001g0081
a0005c0005t0001g0082
a0005c0005t0001g0083
a0005c0005t0001g0096
a0007c0007t0001g0159
a0007c0007t0001g0160
a0007c0007t0001g0161
a0007c0007t0001g0163
a0012c0015t0001g0028
 88 HG00140.hp1
HG00408.hp2
HG00558.hp1
others(85): Show 
HG00140.hp1
HG00408.hp2
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02083.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18946.hp2
NA18956.hp2
NA18959.hp2
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18987.hp1
NA18992.hp1
NA19001.hp2
NA19004.hp1
NA19010.hp2
NA19030.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19074.hp1
NA19076.hp1
NA19078.hp2
NA19079.hp2
NA19081.hp2
NA19086.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1851+421C>A
c.1851+421C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52490771
chr6:52491169 A
A
 C
C
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1851+819A>C
c.1851+819A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491169
chr6:52491268 A
A
 T
T
 3 a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
a0002c0002t0021g0305
a0002c0002t0021g0306
a0002c0002t0048g0307
 3 HG02818.hp1
HG03041.hp1
HG03195.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1851+918A>T
c.1851+918A>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491268
chr6:52491327 G
G
 C
C
 1 a0001c0001t0085g0069
a0001c0001t0085g0069
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1852-943G>C
c.1852-943G>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491327
chr6:52491442 C
C
 T
T
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.1852-828C>T
c.1852-828C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491442
chr6:52491461 G
G
 A
A
 24 a0001c0001t0027g0092
a0001c0001t0037g0088
a0002c0002t0024g0009
others(21): Show 
a0001c0001t0027g0092
a0001c0001t0037g0088
a0002c0002t0024g0009
a0002c0002t0024g0142
a0002c0002t0027g0009
a0002c0002t0033g0009
a0002c0002t0033g0146
a0002c0002t0034g0208
a0002c0002t0034g0216
a0002c0002t0037g0149
a0002c0002t0043g0144
a0002c0002t0043g0145
a0002c0002t0053g0209
a0002c0002t0055g0214
a0002c0002t0058g0147
a0002c0002t0063g0141
a0002c0002t0064g0213
a0002c0002t0067g0215
a0002c0002t0068g0009
a0002c0002t0071g0148
a0002c0002t0078g0211
a0002c0002t0079g0212
a0002c0002t0080g0210
a0002c0002t0090g0114
 24 HG00735.hp1
HG01069.hp2
HG01099.hp1
others(21): Show 
HG00735.hp1
HG01069.hp2
HG01099.hp1
HG01175.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03579.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1852-809G>A
c.1852-809G>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491461
chr6:52491485 C
C
 T
T
 4 a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0072g0194
others(1): Show 
a0006c0006t0017g0014
a0006c0006t0017g0195
a0006c0006t0072g0194
a0006c0006t0073g0014
 5 HG02109.hp2
HG02486.hp2
HG02886.hp2
others(2): Show 
HG02109.hp2
HG02486.hp2
HG02886.hp2
HG03540.hp1
NA18906.hp1
 intron_variant MODIFIER c.1852-785C>T
c.1852-785C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491485
chr6:52491557 TGTTA
TGTTA
 T
T
 36 a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
others(33): Show 
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0007g0040
a0001c0001t0007g0041
a0001c0001t0007g0047
a0001c0001t0007g0051
a0001c0001t0007g0053
a0001c0001t0007g0057
a0001c0001t0007g0061
a0001c0001t0007g0064
a0001c0001t0007g0065
a0001c0001t0011g0007
a0001c0001t0011g0050
a0001c0001t0011g0062
a0001c0001t0011g0063
a0001c0001t0012g0019
a0001c0001t0012g0021
a0001c0001t0012g0046
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0038
a0001c0001t0013g0043
a0001c0001t0013g0045
a0001c0001t0013g0052
a0001c0001t0013g0054
a0001c0001t0028g0020
a0001c0001t0030g0039
a0001c0001t0030g0048
a0001c0001t0060g0055
a0001c0001t0065g0177
a0001c0001t0066g0049
a0001c0001t0069g0058
a0001c0001t0074g0042
a0001c0001t0076g0044
a0001c0001t0088g0056
a0001c0011t0011g0019
 39 HG00140.hp2
HG00280.hp2
HG01109.hp2
others(36): Show 
HG00140.hp2
HG00280.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp2
HG02074.hp1
HG02132.hp1
HG02523.hp2
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA18943.hp2
NA18947.hp1
NA18974.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1852-709_1852-706d
others(6): Show 
c.1852-709_1852-706delAGTT
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 INFO_REALIGN_3_PRIME chr6 52491557
chr6:52491594 C
C
 A
A
 1 a0001c0001t0004g0235
a0001c0001t0004g0235
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1852-676C>A
c.1852-676C>A
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491594
chr6:52491649 C
C
 T
T
 1 a0002c0002t0086g0071
a0002c0002t0086g0071
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1852-621C>T
c.1852-621C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491649
chr6:52491654 C
C
 T
T
 6 a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
others(3): Show 
a0001c0001t0032g0297
a0001c0001t0032g0300
a0001c0001t0035g0037
a0001c0001t0054g0301
a0001c0001t0057g0299
a0001c0001t0062g0298
 7 HG00438.hp1
HG02129.hp2
HG02683.hp2
others(4): Show 
HG00438.hp1
HG02129.hp2
HG02683.hp2
HG03942.hp2
HG04115.hp2
NA18972.hp1
NA19011.hp2
 intron_variant MODIFIER c.1852-616C>T
c.1852-616C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491654
chr6:52491925 C
C
 T
T
 10 a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
others(7): Show 
a0001c0001t0009g0008
a0001c0001t0009g0089
a0001c0001t0009g0090
a0001c0001t0009g0093
a0001c0001t0019g0008
a0001c0001t0019g0091
a0001c0001t0019g0106
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
 12 HG00741.hp1
HG01167.hp2
HG01884.hp2
others(9): Show 
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02559.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03098.hp1
NA19240.hp2
 intron_variant MODIFIER c.1852-345C>T
c.1852-345C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52491925
chr6:52492018 C
C
 T
T
 1 a0002c0002t0058g0147
a0002c0002t0058g0147
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1852-252C>T
c.1852-252C>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52492018
chr6:52492154 A
A
 G
G
 1 a0006c0006t0072g0194
a0006c0006t0072g0194
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1852-116A>G
c.1852-116A>G
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52492154
chr6:52492185 A
A
 C
C
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.1852-85A>C
c.1852-85A>C
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52492185
chr6:52492222 G
G
 T
T
 3 a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
a0001c0001t0020g0086
a0001c0001t0020g0087
a0001c0001t0020g0094
 3 HG02257.hp1
HG02922.hp1
NA19240.hp2
HG02257.hp1
HG02922.hp1
NA19240.hp2
 intron_variant MODIFIER c.1852-48G>T
c.1852-48G>T
EFHC1 ENSG00000096093.16 transcript ENST00000371068.11 protein_coding 10/10 chr6 52492222

  • 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)
​

IGV Connection Help

IGV must be running on your computer before clicking the button.

If your browser shows the "cannot open the page" error, launch IGV and allow access via port 60151:

  1. Open IGV on your computer
  2. In IGV's menu bar: View → Preferences…
  3. Click on the "Advanced" tab
  4. Check "Enable port"
  5. Set the port number to 60151
  6. Click OK to save

For more details, please refer to Information → FAQ.