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?   PDHA1_chrX_19338927_19366718  PDHA1_chrX_19338927_19366718 (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 5160
ensemblid ENSG00000131828.14
hgncid 8806
symbol PDHA1
name pyruvate dehydrogenase E1 subunit alpha 1
refseq_nuc NM_000284.4
refseq_prot NP_000275.1
ensembl_nuc ENST00000422285.7
ensembl_prot ENSP00000394382.2
mane_status MANE Select
chr chrX
start 19343927
end 19361718
strand +
ver v1.2
region chrX:19343927-19361718
region5000 chrX:19338927-19366718
regionname0 PDHA1_chrX_19343927_19361718
regionname5000 PDHA1_chrX_19338927_19366718

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 390 223 76 41 71 5 28 57 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0002 0/0 390 23 0 0 23 0 0 15 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0003 0/0 390 1 0 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 1173 133 2 31 69 5 24 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
c0002 0/0 1173 89 73 10 2 0 4 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
c0003 0/0 1173 23 0 0 23 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
c0004 0/0 1173 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
c0005 0/0 1173 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 2177 161 16 28 89 4 22 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0002 0/0 2180 24 23 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0003 0/0 2180 16 8 2 2 0 4 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0004 0/0 2167 15 10 5 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0005 0/0 2180 8 7 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0006 0/0 2173 4 3 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0007 0/0 2180 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0008 0/0 2177 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0009 0/0 2177 2 0 1 0 1 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0010 0/0 2180 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0011 0/0 2180 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0012 0/0 2177 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0013 0/0 2177 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0014 0/0 2177 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0015 0/0 2177 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0016 0/0 2177 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0017 0/0 2177 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0018 0/0 2169 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0019 0/0 2167 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
t0020 0/0 2177 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 41 2 10 16 3 10 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0002 0/0 15 1 4 9 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0003 0/0 8 0 0 7 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0004 0/0 7 1 2 3 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0005 0/0 5 4 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0006 0/0 4 4 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0007 0/0 4 1 1 1 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0008 0/0 4 0 0 4 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0009 0/0 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0010 0/0 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0011 0/0 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0012 0/0 3 0 0 3 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0013 0/0 3 0 0 3 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0014 0/0 3 1 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0015 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0016 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0017 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0018 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0019 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0020 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0021 0/0 2 1 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0022 0/0 2 0 2 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0023 0/0 2 0 1 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0024 0/0 2 0 1 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0025 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0026 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0027 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0028 0/0 2 0 2 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0029 0/0 2 0 2 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0030 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0031 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0032 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0033 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0034 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0035 1/0 1 0 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0036 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0037 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0038 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0039 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0040 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0041 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0042 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0043 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0044 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0045 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0046 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0047 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0048 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0049 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0050 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0051 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0052 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0053 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0054 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0055 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0056 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0057 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0058 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0059 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0060 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0061 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0062 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0063 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0064 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0065 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0066 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0067 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0068 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0069 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0070 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0071 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0072 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0073 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0074 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0075 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0076 0/0 1 0 0 0 1 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0077 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0078 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0079 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0080 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0081 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0082 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0083 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0084 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0085 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0086 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0087 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0088 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0089 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0090 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0091 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0092 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0093 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0094 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0095 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0096 0/1 1 0 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0097 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0098 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0099 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0100 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0101 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0102 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0103 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0104 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0105 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0106 0/0 1 0 0 0 1 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0107 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0108 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0109 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0110 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0111 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0112 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0113 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0114 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0115 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0116 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0117 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0118 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0119 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0120 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0121 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0122 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0123 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0124 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0125 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0126 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0127 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0128 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0129 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0130 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0131 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0132 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0133 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0134 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0135 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0136 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0137 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0138 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
g0139 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 1173 133 2 31 69 5 24 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002 0/0 1173 89 73 10 2 0 4 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0005 0/0 1173 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0002c0003 0/0 1173 23 0 0 23 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0003c0004 0/0 1173 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 3349 125 2 28 67 4 22 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0001t0009 0/0 3349 2 0 1 0 1 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0001t0012 0/0 3349 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0001t0013 0/0 3349 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0001t0014 0/0 3349 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0001t0016 0/0 3349 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0001t0017 0/0 3349 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0001t0020 0/0 3349 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0001 0/0 3349 14 14 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0002 0/0 3352 24 23 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0003 0/0 3352 16 8 2 2 0 4 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0004 0/0 3339 14 9 5 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0005 0/0 3352 8 7 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0006 0/0 3345 4 3 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0007 0/0 3352 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0010 0/0 3352 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0011 0/0 3352 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0015 0/0 3349 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0018 0/0 3341 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0002t0019 0/0 3339 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0001c0005t0004 0/0 3339 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0002c0003t0001 0/0 3349 21 0 0 21 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0002c0003t0008 0/0 3349 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718
a0003c0004t0001 0/0 3349 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 copy fasta chrX 19338927 19366718

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 30 0 9 11 2 8 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0002 0/0 12 1 4 6 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0003 0/0 7 0 0 6 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0004 0/0 5 0 2 2 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0008 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0012 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0013 0/0 3 0 0 3 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0014 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0023 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0024 0/0 2 0 1 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0025 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0028 0/0 2 0 2 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0029 0/0 2 0 2 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0030 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0035 1/0 1 0 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0039 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0074 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0075 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0076 0/0 1 0 0 0 1 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0078 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0079 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0080 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0082 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0083 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0085 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0086 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0087 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0090 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0094 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0095 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0096 0/1 1 0 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0099 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0100 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0101 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0104 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0106 0/0 1 0 0 0 1 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0107 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0108 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0109 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0110 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0111 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0112 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0113 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0114 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0115 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0116 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0117 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0118 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0120 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0121 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0123 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0124 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0126 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0127 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0130 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0131 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0132 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0133 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0135 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0136 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0001g0137 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0009g0001 0/0 1 0 0 0 1 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0009g0125 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0012g0001 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0013g0002 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0014g0001 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0016g0001 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0017g0129 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0001t0020g0077 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0001 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0004 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0014 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0015 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0027 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0032 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0033 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0034 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0089 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0105 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0134 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0001g0138 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0006 0/0 4 4 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0010 0/0 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0016 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0018 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0036 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0037 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0038 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0040 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0041 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0046 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0052 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0054 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0057 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0062 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0063 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0069 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0002g0070 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0007 0/0 4 1 1 1 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0019 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0020 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0031 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0047 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0048 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0055 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0056 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0058 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0059 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0003g0060 0/0 1 0 0 0 0 1 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0011 0/0 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0021 0/0 2 1 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0022 0/0 2 0 2 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0061 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0064 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0065 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0066 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0067 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0068 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0004g0071 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0005g0005 0/0 5 4 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0005g0042 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0005g0043 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0005g0044 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0006g0045 0/0 1 0 1 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0006g0049 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0006g0050 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0006g0051 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0007g0009 0/0 3 3 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0010g0017 0/0 2 2 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0011g0053 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0015g0001 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0018g0072 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0002t0019g0139 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0001c0005t0004g0073 0/0 1 1 0 0 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0001 0/0 5 0 0 5 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0002 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0003 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0004 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0008 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0012 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0014 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0026 0/0 2 0 0 2 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0088 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0093 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0098 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0102 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0119 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0122 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0001g0128 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0008g0002 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0002c0003t0008g0023 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
a0003c0004t0001g0091 0/0 1 0 0 1 0 0 PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0001 g0076 EUR GBR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00280 hp1 a0001 c0001 t0001 g0001 EUR FIN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00408 hp1 a0002 c0003 t0001 g0004 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00408 hp2 a0001 c0001 t0001 g0115 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00558 hp1 a0002 c0003 t0001 g0119 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00558 hp2 a0001 c0001 t0001 g0001 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00597 hp1 a0001 c0001 t0001 g0103 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00597 hp2 a0001 c0001 t0001 g0004 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00609 hp1 a0001 c0001 t0001 g0002 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00621 hp1 a0001 c0001 t0001 g0084 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00642 hp1 a0001 c0001 t0001 g0101 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00673 hp1 a0001 c0001 t0001 g0004 EAS CHS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00735 hp1 a0001 c0001 t0001 g0136 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00735 hp2 a0001 c0001 t0001 g0100 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG00738 hp1 a0001 c0001 t0001 g0099 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01069 hp1 a0001 c0001 t0001 g0001 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01070 hp1 a0001 c0002 t0004 g0021 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01070 hp2 a0001 c0002 t0003 g0007 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01071 hp1 a0001 c0001 t0001 g0001 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01071 hp2 a0001 c0002 t0004 g0022 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01074 hp1 a0001 c0001 t0001 g0001 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01081 hp1 a0001 c0001 t0001 g0028 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01081 hp2 a0001 c0002 t0003 g0048 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01099 hp1 a0001 c0001 t0001 g0001 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01106 hp1 a0001 c0002 t0002 g0040 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01109 hp1 a0001 c0002 t0004 g0064 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01167 hp1 a0001 c0001 t0001 g0029 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01169 hp1 a0001 c0001 t0001 g0029 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01169 hp2 a0001 c0001 t0001 g0028 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01192 hp1 a0001 c0001 t0001 g0111 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01243 hp1 a0001 c0002 t0004 g0022 AMR PUR PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01255 hp1 a0001 c0001 t0001 g0002 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01256 hp1 a0001 c0001 t0001 g0001 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01258 hp1 a0001 c0001 t0001 g0002 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01261 hp1 a0001 c0001 t0001 g0004 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01346 hp1 a0001 c0001 t0001 g0039 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01346 hp2 a0001 c0001 t0009 g0125 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01358 hp1 a0001 c0001 t0001 g0002 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01361 hp1 a0001 c0001 t0001 g0095 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01361 hp2 a0001 c0002 t0006 g0045 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01433 hp1 a0001 c0001 t0020 g0077 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01496 hp1 a0001 c0001 t0001 g0001 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01496 hp2 a0001 c0001 t0001 g0004 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01515 hp1 a0001 c0001 t0009 g0001 EUR IBS PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01884 hp1 a0001 c0002 t0004 g0021 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01884 hp2 a0001 c0002 t0010 g0017 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01891 hp1 a0001 c0005 t0004 g0073 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01891 hp2 a0001 c0002 t0001 g0034 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01928 hp1 a0001 c0001 t0001 g0001 AMR PEL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01934 hp1 a0001 c0001 t0001 g0024 AMR PEL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01943 hp1 a0001 c0001 t0001 g0001 AMR PEL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01952 hp1 a0001 c0001 t0016 g0001 AMR PEL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02015 hp1 a0001 c0002 t0003 g0007 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02027 hp1 a0002 c0003 t0001 g0012 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02040 hp1 a0001 c0001 t0001 g0127 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02055 hp1 a0001 c0002 t0002 g0041 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02056 hp1 a0001 c0001 t0001 g0024 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02071 hp1 a0002 c0003 t0001 g0001 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02074 hp1 a0001 c0001 t0001 g0135 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02083 hp1 a0001 c0002 t0003 g0031 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02129 hp1 a0002 c0003 t0001 g0001 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02132 hp1 a0002 c0003 t0001 g0001 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02135 hp1 a0003 c0004 t0001 g0091 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02145 hp1 a0001 c0002 t0003 g0020 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02257 hp1 a0001 c0001 t0001 g0080 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02257 hp2 a0001 c0002 t0004 g0066 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02258 hp1 a0001 c0002 t0002 g0010 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02280 hp1 a0001 c0002 t0005 g0005 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02280 hp2 a0001 c0002 t0002 g0006 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02293 hp1 a0001 c0001 t0001 g0023 AMR PEL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02293 hp2 a0001 c0002 t0005 g0005 AMR PEL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02300 hp1 a0001 c0001 t0001 g0001 AMR PEL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02451 hp1 a0001 c0002 t0007 g0009 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02451 hp2 a0001 c0002 t0006 g0049 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02523 hp1 a0001 c0001 t0001 g0002 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02523 hp2 a0001 c0001 t0013 g0002 EAS KHV PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02572 hp1 a0001 c0002 t0004 g0011 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02602 hp1 a0001 c0001 t0001 g0108 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02615 hp1 a0001 c0002 t0007 g0009 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02615 hp2 a0001 c0002 t0002 g0016 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02622 hp1 a0001 c0002 t0001 g0001 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02622 hp2 a0001 c0002 t0004 g0068 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02630 hp1 a0001 c0002 t0003 g0007 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02630 hp2 a0001 c0002 t0002 g0018 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02647 hp1 a0001 c0002 t0001 g0014 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02683 hp1 a0001 c0001 t0012 g0001 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02683 hp2 a0001 c0001 t0001 g0107 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02698 hp1 a0001 c0001 t0001 g0001 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02717 hp1 a0001 c0002 t0002 g0070 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02723 hp1 a0001 c0002 t0002 g0046 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02723 hp2 a0001 c0002 t0010 g0017 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02735 hp1 a0001 c0001 t0001 g0001 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02738 hp1 a0001 c0002 t0003 g0058 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02809 hp1 a0001 c0002 t0002 g0069 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02809 hp2 a0001 c0002 t0015 g0001 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02818 hp1 a0001 c0002 t0004 g0011 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02818 hp2 a0001 c0002 t0002 g0038 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02895 hp1 a0001 c0002 t0005 g0005 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02897 hp1 a0001 c0002 t0005 g0044 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02897 hp2 a0001 c0002 t0002 g0037 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02922 hp1 a0001 c0002 t0002 g0006 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02922 hp2 a0001 c0002 t0004 g0071 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02965 hp1 a0001 c0002 t0001 g0033 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02970 hp1 a0001 c0002 t0004 g0061 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02970 hp2 a0001 c0002 t0005 g0005 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02976 hp1 a0001 c0002 t0005 g0005 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02976 hp2 a0001 c0002 t0001 g0027 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03017 hp1 a0001 c0001 t0001 g0001 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03041 hp1 a0001 c0002 t0001 g0032 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03041 hp2 a0001 c0002 t0019 g0139 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03098 hp1 a0001 c0002 t0002 g0062 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03130 hp1 a0001 c0002 t0001 g0105 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03139 hp1 a0001 c0002 t0001 g0027 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03195 hp1 a0001 c0002 t0002 g0010 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03195 hp2 a0001 c0002 t0005 g0042 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03209 hp1 a0001 c0002 t0003 g0019 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03225 hp1 a0001 c0002 t0004 g0067 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03239 hp1 a0001 c0001 t0001 g0001 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03239 hp2 a0001 c0001 t0001 g0118 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03453 hp1 a0001 c0002 t0002 g0006 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03453 hp2 a0001 c0002 t0002 g0018 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03486 hp1 a0001 c0002 t0003 g0055 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03486 hp2 a0001 c0002 t0003 g0019 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03490 hp1 a0001 c0001 t0001 g0121 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03492 hp1 a0001 c0001 t0014 g0001 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03516 hp1 a0001 c0002 t0018 g0072 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03516 hp2 a0001 c0002 t0002 g0057 AFR ESN PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03540 hp1 a0001 c0002 t0002 g0052 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03540 hp2 a0001 c0002 t0002 g0036 AFR GWD PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03579 hp1 a0001 c0002 t0004 g0011 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03654 hp1 a0001 c0001 t0001 g0074 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03669 hp1 a0001 c0001 t0001 g0124 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03669 hp2 a0001 c0001 t0001 g0001 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03688 hp1 a0001 c0001 t0001 g0075 SAS STU PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03710 hp1 a0001 c0002 t0003 g0007 SAS PJL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03831 hp1 a0001 c0001 t0001 g0001 SAS BEB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03831 hp2 a0001 c0001 t0001 g0090 SAS BEB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03834 hp1 a0001 c0001 t0001 g0104 SAS BEB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03834 hp2 a0001 c0001 t0001 g0004 SAS BEB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03927 hp1 a0001 c0001 t0001 g0002 SAS BEB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03927 hp2 a0001 c0001 t0001 g0086 SAS BEB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03942 hp1 a0001 c0001 t0001 g0087 SAS BEB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG04115 hp1 a0001 c0001 t0001 g0001 SAS STU PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG04199 hp1 a0001 c0002 t0003 g0059 SAS STU PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG04204 hp1 a0001 c0001 t0001 g0001 SAS STU PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG04228 hp1 a0001 c0001 t0001 g0003 SAS STU PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18522 hp1 a0001 c0002 t0007 g0009 AFR YRI PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18612 hp1 a0002 c0003 t0001 g0003 EAS CHB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18747 hp1 a0002 c0003 t0001 g0014 EAS CHB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18940 hp1 a0001 c0001 t0001 g0081 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18942 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18942 hp2 a0002 c0003 t0001 g0122 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18943 hp1 a0001 c0001 t0001 g0008 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18944 hp1 a0001 c0001 t0001 g0002 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18945 hp1 a0001 c0001 t0001 g0013 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18948 hp1 a0001 c0001 t0001 g0003 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18950 hp1 a0002 c0003 t0001 g0026 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18950 hp2 a0001 c0001 t0001 g0085 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18952 hp1 a0001 c0001 t0001 g0131 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18953 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18959 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18960 hp1 a0002 c0003 t0001 g0008 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18961 hp1 a0001 c0001 t0001 g0130 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18962 hp1 a0001 c0001 t0001 g0013 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18963 hp1 a0002 c0003 t0001 g0026 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18963 hp2 a0001 c0001 t0001 g0133 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18965 hp1 a0001 c0001 t0001 g0078 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18966 hp1 a0001 c0001 t0001 g0003 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18967 hp1 a0001 c0001 t0001 g0079 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18969 hp1 a0001 c0001 t0017 g0129 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18969 hp2 a0002 c0003 t0001 g0088 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18970 hp1 a0001 c0001 t0001 g0120 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18971 hp1 a0001 c0001 t0001 g0030 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18974 hp2 a0001 c0001 t0001 g0137 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18977 hp1 a0001 c0001 t0001 g0012 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18982 hp1 a0001 c0001 t0001 g0113 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18983 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18984 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18985 hp1 a0001 c0001 t0001 g0110 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18986 hp1 a0001 c0001 t0001 g0117 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18988 hp1 a0002 c0003 t0008 g0002 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18989 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18990 hp1 a0002 c0003 t0001 g0128 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18994 hp1 a0001 c0001 t0001 g0097 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18995 hp1 a0002 c0003 t0001 g0093 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18998 hp1 a0001 c0001 t0001 g0003 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18998 hp2 a0002 c0003 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19000 hp1 a0001 c0001 t0001 g0025 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19004 hp1 a0001 c0001 t0001 g0126 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19005 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19006 hp1 a0001 c0001 t0001 g0008 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19007 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19009 hp1 a0001 c0001 t0001 g0002 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19010 hp1 a0001 c0001 t0001 g0003 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19010 hp2 a0001 c0001 t0001 g0123 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19011 hp1 a0002 c0003 t0001 g0102 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19011 hp2 a0002 c0003 t0001 g0098 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19012 hp1 a0001 c0001 t0001 g0082 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19030 hp1 a0001 c0002 t0001 g0138 AFR LWK PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19030 hp2 a0001 c0002 t0002 g0054 AFR LWK PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19043 hp1 a0001 c0002 t0006 g0051 AFR LWK PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19056 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19058 hp1 a0002 c0003 t0001 g0008 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19060 hp1 a0001 c0001 t0001 g0002 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19062 hp1 a0001 c0001 t0001 g0002 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19063 hp1 a0001 c0001 t0001 g0003 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19066 hp1 a0001 c0001 t0001 g0112 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19067 hp1 a0001 c0001 t0001 g0094 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19068 hp1 a0001 c0001 t0001 g0003 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19070 hp1 a0001 c0001 t0001 g0025 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19072 hp1 a0001 c0001 t0001 g0116 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19075 hp1 a0002 c0003 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19076 hp1 a0001 c0001 t0001 g0012 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19079 hp1 a0002 c0003 t0001 g0002 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19082 hp1 a0001 c0001 t0001 g0109 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19083 hp1 a0001 c0001 t0001 g0001 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19085 hp1 a0001 c0001 t0001 g0092 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19086 hp1 a0001 c0001 t0001 g0083 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19087 hp1 a0001 c0001 t0001 g0030 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19087 hp2 a0001 c0001 t0001 g0114 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19088 hp1 a0001 c0001 t0001 g0014 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19089 hp1 a0001 c0001 t0001 g0013 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19091 hp1 a0001 c0001 t0001 g0132 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19240 hp1 a0001 c0002 t0001 g0015 AFR YRI PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA19240 hp2 a0001 c0002 t0006 g0050 AFR YRI PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA20129 hp1 a0001 c0002 t0001 g0015 AFR ASW PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA20129 hp2 a0001 c0002 t0003 g0020 AFR ASW PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA20752 hp1 a0001 c0001 t0001 g0106 EUR TSI PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA20805 hp1 a0001 c0001 t0001 g0001 EUR TSI PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA20905 hp1 a0001 c0002 t0003 g0060 SAS GIH PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01123 hp1 a0001 c0001 t0001 g0002 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG01123 hp2 a0001 c0002 t0004 g0065 AMR CLM PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02109 hp1 a0001 c0002 t0002 g0010 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02109 hp2 a0001 c0002 t0001 g0004 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02486 hp1 a0001 c0002 t0002 g0016 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02559 hp1 a0001 c0002 t0002 g0063 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG02559 hp2 a0001 c0002 t0003 g0047 AFR ACB PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG03471 hp1 a0001 c0002 t0003 g0056 AFR MSL PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG06807 hp1 a0001 c0002 t0001 g0134 AFR USA PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
HG06807 hp2 a0001 c0002 t0002 g0006 AFR USA PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA18955 hp1 a0002 c0003 t0008 g0023 EAS JPT PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA20300 hp1 a0001 c0001 t0001 g0002 AFR USA PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA20300 hp2 a0001 c0002 t0005 g0043 AFR USA PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA21309 hp1 a0001 c0002 t0011 g0053 AFR LWK PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
NA21309 hp2 a0001 c0002 t0001 g0089 AFR LWK PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0096 REF REF PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0035 REF REF PDHA1_chrX_19338927_19366718 PDHA1 chrX 19338927 19366718

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
chrX:19355741 A
A
 G
G
 1 a0003
a0003
 1 HG02135.hp1
HG02135.hp1
 missense_variant MODERATE c.815A>G
c.815A>G
 p.Tyr272Cys
p.Tyr272Cys
 PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/11 926/3349 815/1173 272/390 chrX 19355741
chrX:19357664 A
A
 C
C
 1 a0002
a0002
 23 HG00408.hp1
HG00558.hp1
HG02027.hp1
others(20): Show 
HG00408.hp1
HG00558.hp1
HG02027.hp1
HG02071.hp1
HG02129.hp1
HG02132.hp1
NA18612.hp1
NA18747.hp1
NA18942.hp2
NA18950.hp1
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18969.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18998.hp2
NA19011.hp1
NA19011.hp2
NA19058.hp1
NA19075.hp1
NA19079.hp1
 missense_variant MODERATE c.844A>C
c.844A>C
 p.Met282Leu
p.Met282Leu
 PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/11 955/3349 844/1173 282/390 chrX 19357664

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
chrX:19355721 A
A
 G
G
 2 a0001c0002
a0001c0005
a0001c0002
a0001c0005
 90 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(87): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.795A>G
c.795A>G
 p.Ala265Ala
p.Ala265Ala
 PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/11 906/3349 795/1173 265/390 chrX 19355721
chrX:19355724 A
A
 G
G
 1 a0001c0005
a0001c0005
 1 HG01891.hp1
HG01891.hp1
 synonymous_variant LOW c.798A>G
c.798A>G
 p.Thr266Thr
p.Thr266Thr
 PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/11 909/3349 798/1173 266/390 chrX 19355724

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
chrX:19343950 G
G
 A
A
 1 a0001c0002t0003
a0001c0002t0003
 16 HG01070.hp2
HG01081.hp2
HG02015.hp1
others(13): Show 
HG01070.hp2
HG01081.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02738.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20905.hp1
 5_prime_UTR_variant MODIFIER c.-88G>A
c.-88G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/11 88 chrX 19343950
chrX:19343987 C
C
 G
G
 1 a0001c0001t0020
a0001c0001t0020
 1 HG01433.hp1
HG01433.hp1
 5_prime_UTR_variant MODIFIER c.-51C>G
c.-51C>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/11 51 chrX 19343987
chrX:19359743 T
T
 A
A
 1 a0001c0002t0011
a0001c0002t0011
 1 NA21309.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*90T>A
c.*90T>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 90 chrX 19359743
chrX:19359763 C
C
 T
T
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*110C>T
c.*110C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 110 chrX 19359763
chrX:19359941 CCCAGCCA
CCCAGCCA
 C
C
 1 a0001c0002t0006
a0001c0002t0006
 4 HG01361.hp2
HG02451.hp2
NA19043.hp1
others(1): Show 
HG01361.hp2
HG02451.hp2
NA19043.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*291_*297delAGCCAC
others(1): Show 
c.*291_*297delAGCCACC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 291 INFO_REALIGN_3_PRIME chrX 19359941
chrX:19359972 G
G
 T
T
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*319G>T
c.*319G>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 319 chrX 19359972
chrX:19359975 G
G
 A
A
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*322G>A
c.*322G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 322 chrX 19359975
chrX:19360023 G
G
 A
A
 1 a0001c0001t0012
a0001c0001t0012
 1 HG02683.hp1
HG02683.hp1
 3_prime_UTR_variant MODIFIER c.*370G>A
c.*370G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 370 chrX 19360023
chrX:19360045 G
G
 A
A
 2 a0001c0001t0013
a0001c0002t0006
a0001c0001t0013
a0001c0002t0006
 5 HG01361.hp2
HG02451.hp2
HG02523.hp2
others(2): Show 
HG01361.hp2
HG02451.hp2
HG02523.hp2
NA19043.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*392G>A
c.*392G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 392 chrX 19360045
chrX:19360050 C
C
 CCAT
CCAT
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*398_*400dupCAT
c.*398_*400dupCAT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 401 INFO_REALIGN_3_PRIME chrX 19360050
chrX:19360101 TTTTAAAA
others(6): Show 
TTTTAAAATAAGAC
 T
T
 4 a0001c0002t0004
a0001c0002t0018
a0001c0002t0019
others(1): Show 
a0001c0002t0004
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 17 HG01070.hp1
HG01071.hp2
HG01109.hp1
others(14): Show 
HG01070.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02257.hp2
HG02572.hp1
HG02622.hp2
HG02818.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03516.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*452_*464delAAAATA
others(7): Show 
c.*452_*464delAAAATAAGACTTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 452 INFO_REALIGN_3_PRIME chrX 19360101
chrX:19360267 G
G
 T
T
 3 a0001c0002t0003
a0001c0002t0005
a0001c0002t0010
a0001c0002t0003
a0001c0002t0005
a0001c0002t0010
 26 HG01070.hp2
HG01081.hp2
HG01884.hp2
others(23): Show 
HG01070.hp2
HG01081.hp2
HG01884.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp2
HG02559.hp2
HG02630.hp1
HG02723.hp2
HG02738.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*614G>T
c.*614G>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 614 chrX 19360267
chrX:19360306 A
A
 G
G
 1 a0001c0001t0017
a0001c0001t0017
 1 NA18969.hp1
NA18969.hp1
 3_prime_UTR_variant MODIFIER c.*653A>G
c.*653A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 653 chrX 19360306
chrX:19360360 G
G
 A
A
 1 a0002c0003t0008
a0002c0003t0008
 2 NA18955.hp1
NA18988.hp1
NA18955.hp1
NA18988.hp1
 3_prime_UTR_variant MODIFIER c.*707G>A
c.*707G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 707 chrX 19360360
chrX:19360381 C
C
 T
T
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*728C>T
c.*728C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 728 chrX 19360381
chrX:19360497 A
A
 G
G
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*844A>G
c.*844A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 844 chrX 19360497
chrX:19360510 A
A
 G
G
 1 a0001c0002t0019
a0001c0002t0019
 1 HG03041.hp2
HG03041.hp2
 3_prime_UTR_variant MODIFIER c.*857A>G
c.*857A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 857 chrX 19360510
chrX:19360517 G
G
 A
A
 1 a0001c0002t0019
a0001c0002t0019
 1 HG03041.hp2
HG03041.hp2
 3_prime_UTR_variant MODIFIER c.*864G>A
c.*864G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 864 chrX 19360517
chrX:19360666 C
C
 A
A
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1013C>A
c.*1013C>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1013 chrX 19360666
chrX:19360674 G
G
 A
A
 1 a0001c0002t0007
a0001c0002t0007
 3 HG02451.hp1
HG02615.hp1
NA18522.hp1
HG02451.hp1
HG02615.hp1
NA18522.hp1
 3_prime_UTR_variant MODIFIER c.*1021G>A
c.*1021G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1021 chrX 19360674
chrX:19360712 G
G
 A
A
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1059G>A
c.*1059G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1059 chrX 19360712
chrX:19360760 C
C
 CTT
CTT
 1 a0001c0002t0018
a0001c0002t0018
 1 HG03516.hp1
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*1109_*1110dupTT
c.*1109_*1110dupTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1111 INFO_REALIGN_3_PRIME chrX 19360760
chrX:19360861 A
A
 C
C
 1 a0001c0001t0016
a0001c0001t0016
 1 HG01952.hp1
HG01952.hp1
 3_prime_UTR_variant MODIFIER c.*1208A>C
c.*1208A>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1208 chrX 19360861
chrX:19361030 G
G
 A
A
 10 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(7): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 67 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(64): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1377G>A
c.*1377G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1377 chrX 19361030
chrX:19361047 C
C
 T
T
 11 a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
others(8): Show 
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0010
a0001c0002t0011
a0001c0002t0018
a0001c0002t0019
a0001c0005t0004
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1394C>T
c.*1394C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1394 chrX 19361047
chrX:19361216 C
C
 G
G
 1 a0001c0002t0015
a0001c0002t0015
 1 HG02809.hp2
HG02809.hp2
 3_prime_UTR_variant MODIFIER c.*1563C>G
c.*1563C>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1563 chrX 19361216
chrX:19361251 G
G
 C
C
 1 a0001c0001t0009
a0001c0001t0009
 2 HG01346.hp2
HG01515.hp1
HG01346.hp2
HG01515.hp1
 3_prime_UTR_variant MODIFIER c.*1598G>C
c.*1598G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1598 chrX 19361251
chrX:19361339 C
C
 T
T
 1 a0001c0001t0014
a0001c0001t0014
 1 HG03492.hp1
HG03492.hp1
 3_prime_UTR_variant MODIFIER c.*1686C>T
c.*1686C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 11/11 1686 chrX 19361339

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
chrX:19344118 G
G
 T
T
 1 a0001c0002t0019g0139
a0001c0002t0019g0139
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.57+24G>T
c.57+24G>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19344118
chrX:19344185 G
G
 C
C
 1 a0001c0002t0003g0031
a0001c0002t0003g0031
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.57+91G>C
c.57+91G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19344185
chrX:19344383 T
T
 C
C
 4 a0001c0002t0001g0015
a0001c0002t0001g0032
a0001c0002t0001g0033
others(1): Show 
a0001c0002t0001g0015
a0001c0002t0001g0032
a0001c0002t0001g0033
a0001c0002t0001g0034
 5 HG01891.hp2
HG02965.hp1
HG03041.hp1
others(2): Show 
HG01891.hp2
HG02965.hp1
HG03041.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.57+289T>C
c.57+289T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19344383
chrX:19344654 G
G
 GAAATGTT
others(11): Show 
GAAATGTTATCGGTTATTA
 156 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(153): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0009g0001
a0001c0001t0009g0125
a0001c0001t0012g0001
a0001c0001t0013g0002
a0001c0001t0014g0001
a0001c0001t0016g0001
a0001c0001t0017g0129
a0001c0001t0020g0077
a0001c0002t0001g0001
a0001c0002t0001g0004
a0001c0002t0001g0014
a0001c0002t0001g0015
a0001c0002t0001g0027
a0001c0002t0001g0032
a0001c0002t0001g0033
a0001c0002t0001g0034
a0001c0002t0001g0089
a0001c0002t0001g0105
a0001c0002t0001g0134
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0015g0001
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
a0002c0003t0001g0001
a0002c0003t0001g0002
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0012
a0002c0003t0001g0014
a0002c0003t0001g0026
a0002c0003t0001g0088
a0002c0003t0001g0093
a0002c0003t0001g0098
a0002c0003t0001g0102
a0002c0003t0001g0119
a0002c0003t0001g0122
a0002c0003t0001g0128
a0002c0003t0008g0002
a0002c0003t0008g0023
a0003c0004t0001g0091
 246 HG00140.hp1
HG00280.hp1
HG00408.hp1
others(243): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19072.hp1
NA19075.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.57+570_57+571insGG
others(16): Show 
c.57+570_57+571insGGTTATTAAAATGTTATC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19344654
chrX:19344742 GA
GA
 G
G
 1 a0001c0002t0001g0138
a0001c0002t0001g0138
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.57+651delA
c.57+651delA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19344742
chrX:19345122 A
A
 AC
AC
 6 a0001c0001t0001g0039
a0001c0002t0002g0006
a0001c0002t0002g0016
others(3): Show 
a0001c0001t0001g0039
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
 10 HG01346.hp1
HG02280.hp2
HG02486.hp1
others(7): Show 
HG01346.hp1
HG02280.hp2
HG02486.hp1
HG02615.hp2
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp2
 intron_variant MODIFIER c.57+1034dupC
c.57+1034dupC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345122
chrX:19345178 C
C
 CT
CT
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA18974.hp2
NA18974.hp2
 intron_variant MODIFIER c.57+1085dupT
c.57+1085dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345178
chrX:19345215 G
G
 A
A
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.57+1121G>A
c.57+1121G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345215
chrX:19345428 G
G
 T
T
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.57+1334G>T
c.57+1334G>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345428
chrX:19345549 G
G
 C
C
 1 a0001c0002t0002g0040
a0001c0002t0002g0040
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.57+1455G>C
c.57+1455G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345549
chrX:19345561 A
A
 G
G
 23 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
others(20): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 31 HG01070.hp1
HG01071.hp2
HG01109.hp1
others(28): Show 
HG01070.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA19030.hp1
 intron_variant MODIFIER c.57+1467A>G
c.57+1467A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345561
chrX:19345568 AT
AT
 A
A
 2 a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0075
a0001c0001t0001g0076
 2 HG00140.hp1
HG03688.hp1
HG00140.hp1
HG03688.hp1
 intron_variant MODIFIER c.57+1478delT
c.57+1478delT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345568
chrX:19345571 T
T
 TA
TA
 1 a0001c0002t0004g0061
a0001c0002t0004g0061
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.57+1477_57+1478ins
others(1): Show 
c.57+1477_57+1478insA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345571
chrX:19345572 T
T
 A
A
 2 a0001c0001t0001g0074
a0001c0002t0004g0061
a0001c0001t0001g0074
a0001c0002t0004g0061
 2 HG02970.hp1
HG03654.hp1
HG02970.hp1
HG03654.hp1
 intron_variant MODIFIER c.57+1478T>A
c.57+1478T>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345572
chrX:19345572 T
T
 TA
TA
 11 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
others(8): Show 
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0002t0002g0063
a0001c0002t0004g0011
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
 13 HG01109.hp1
HG01123.hp2
HG02257.hp1
others(10): Show 
HG01109.hp1
HG01123.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp2
HG02818.hp1
HG03225.hp1
HG03579.hp1
NA18940.hp1
NA18965.hp1
NA18967.hp1
 intron_variant MODIFIER c.57+1508dupA
c.57+1508dupA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345572
chrX:19345572 T
T
 TAA
TAA
 2 a0001c0001t0020g0077
a0001c0002t0002g0062
a0001c0001t0020g0077
a0001c0002t0002g0062
 2 HG01433.hp1
HG03098.hp1
HG01433.hp1
HG03098.hp1
 intron_variant MODIFIER c.57+1507_57+1508dup
others(2): Show 
c.57+1507_57+1508dupAA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345572
chrX:19345572 T
T
 TAAAAAAA
others(3): Show 
TAAAAAAAAAA
 1 a0001c0002t0002g0041
a0001c0002t0002g0041
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.57+1499_57+1508dup
others(10): Show 
c.57+1499_57+1508dupAAAAAAAAAA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345572
chrX:19345572 TA
TA
 T
T
 71 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0004
others(68): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0101
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0115
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0118
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0009g0001
a0001c0001t0009g0125
a0001c0001t0012g0001
a0001c0001t0014g0001
a0001c0001t0016g0001
a0001c0001t0017g0129
a0001c0002t0001g0001
a0001c0002t0001g0004
a0001c0002t0001g0015
a0001c0002t0001g0027
a0001c0002t0001g0033
a0001c0002t0001g0034
a0001c0002t0001g0105
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0040
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0005g0005
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0011g0053
a0001c0002t0015g0001
a0002c0003t0001g0001
a0002c0003t0001g0003
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0026
a0002c0003t0001g0102
a0002c0003t0001g0119
a0002c0003t0001g0122
a0002c0003t0001g0128
 136 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(133): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01952.hp1
HG02040.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18989.hp1
NA18990.hp1
NA18998.hp1
NA18998.hp2
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19058.hp1
NA19063.hp1
NA19066.hp1
NA19068.hp1
NA19072.hp1
NA19075.hp1
NA19082.hp1
NA19083.hp1
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.57+1508delA
c.57+1508delA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345572
chrX:19345572 TAA
TAA
 T
T
 12 a0001c0001t0001g0014
a0001c0001t0001g0132
a0001c0001t0001g0133
others(9): Show 
a0001c0001t0001g0014
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0002t0001g0014
a0001c0002t0001g0134
a0001c0002t0002g0038
a0001c0002t0003g0007
a0001c0002t0003g0031
a0001c0002t0003g0058
a0001c0002t0005g0044
a0001c0002t0007g0009
a0002c0003t0001g0014
 17 HG01070.hp2
HG02015.hp1
HG02083.hp1
others(14): Show 
HG01070.hp2
HG02015.hp1
HG02083.hp1
HG02451.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02738.hp1
HG02818.hp2
HG02897.hp1
HG03710.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18963.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.57+1507_57+1508del
others(2): Show 
c.57+1507_57+1508delAA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345572
chrX:19345572 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 T
T
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.57+1497_57+1508del
others(12): Show 
c.57+1497_57+1508delAAAAAAAAAAAA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345572
chrX:19345572 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 T
T
 1 a0001c0002t0003g0060
a0001c0002t0003g0060
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.57+1495_57+1508del
others(14): Show 
c.57+1495_57+1508delAAAAAAAAAAAAAA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345572
chrX:19345573 A
A
 T
T
 9 a0001c0001t0001g0135
a0001c0002t0002g0018
a0001c0002t0002g0046
others(6): Show 
a0001c0001t0001g0135
a0001c0002t0002g0018
a0001c0002t0002g0046
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0059
a0001c0002t0006g0045
a0001c0002t0010g0017
a0001c0002t0019g0139
 11 HG01081.hp2
HG01361.hp2
HG01884.hp2
others(8): Show 
HG01081.hp2
HG01361.hp2
HG01884.hp2
HG02074.hp1
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03041.hp2
HG03453.hp2
HG04199.hp1
 intron_variant MODIFIER c.57+1479A>T
c.57+1479A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345573
chrX:19345574 A
A
 T
T
 14 a0001c0002t0002g0010
a0001c0002t0002g0040
a0001c0002t0002g0052
others(11): Show 
a0001c0002t0002g0010
a0001c0002t0002g0040
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0059
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0011g0053
 18 HG01106.hp1
HG02109.hp1
HG02145.hp1
others(15): Show 
HG01106.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp2
HG03195.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG04199.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.57+1480A>T
c.57+1480A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345574
chrX:19345575 A
A
 T
T
 3 a0001c0002t0003g0007
a0001c0002t0003g0031
a0001c0002t0003g0058
a0001c0002t0003g0007
a0001c0002t0003g0031
a0001c0002t0003g0058
 6 HG01070.hp2
HG02015.hp1
HG02083.hp1
others(3): Show 
HG01070.hp2
HG02015.hp1
HG02083.hp1
HG02630.hp1
HG02738.hp1
HG03710.hp1
 intron_variant MODIFIER c.57+1481A>T
c.57+1481A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345575
chrX:19345587 A
A
 T
T
 1 a0001c0002t0003g0060
a0001c0002t0003g0060
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.57+1493A>T
c.57+1493A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345587
chrX:19345588 A
A
 T
T
 1 a0001c0002t0003g0060
a0001c0002t0003g0060
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.57+1494A>T
c.57+1494A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19345588
chrX:19345745 T
T
 TC
TC
 43 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0023
others(40): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0135
a0001c0002t0001g0004
a0001c0002t0001g0105
a0001c0002t0002g0037
a0001c0002t0002g0070
a0001c0002t0004g0011
a0001c0002t0004g0022
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0071
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
a0002c0003t0001g0004
a0002c0003t0001g0008
a0002c0003t0001g0026
a0002c0003t0001g0088
a0002c0003t0001g0102
a0002c0003t0008g0023
 54 HG00408.hp1
HG00597.hp1
HG00597.hp2
others(51): Show 
HG00408.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00673.hp1
HG01071.hp2
HG01123.hp2
HG01192.hp1
HG01243.hp1
HG01261.hp1
HG01361.hp2
HG01496.hp2
HG01891.hp1
HG01934.hp1
HG02056.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02293.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp1
HG02683.hp2
HG02717.hp1
HG02818.hp1
HG02897.hp2
HG02922.hp2
HG03041.hp2
HG03130.hp1
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
NA18943.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18965.hp1
NA18967.hp1
NA18969.hp2
NA18985.hp1
NA19006.hp1
NA19011.hp1
NA19058.hp1
NA19066.hp1
NA19082.hp1
NA19086.hp1
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.57+1663dupC
c.57+1663dupC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345745
chrX:19345745 T
T
 TCC
TCC
 8 a0001c0001t0001g0082
a0001c0001t0001g0101
a0001c0002t0002g0006
others(5): Show 
a0001c0001t0001g0082
a0001c0001t0001g0101
a0001c0002t0002g0006
a0001c0002t0002g0036
a0001c0002t0002g0038
a0001c0002t0002g0069
a0001c0002t0004g0021
a0001c0002t0004g0064
 12 HG00642.hp1
HG01070.hp1
HG01109.hp1
others(9): Show 
HG00642.hp1
HG01070.hp1
HG01109.hp1
HG01884.hp1
HG02280.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp2
NA19012.hp1
 intron_variant MODIFIER c.57+1662_57+1663dup
others(2): Show 
c.57+1662_57+1663dupCC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345745
chrX:19345745 T
T
 TCCC
TCCC
 4 a0001c0002t0001g0138
a0001c0002t0002g0016
a0001c0002t0002g0062
others(1): Show 
a0001c0002t0001g0138
a0001c0002t0002g0016
a0001c0002t0002g0062
a0001c0002t0002g0063
 5 HG02486.hp1
HG02559.hp1
HG02615.hp2
others(2): Show 
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG03098.hp1
NA19030.hp1
 intron_variant MODIFIER c.57+1661_57+1663dup
others(3): Show 
c.57+1661_57+1663dupCCC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345745
chrX:19345745 TC
TC
 T
T
 10 a0001c0001t0001g0100
a0001c0001t0001g0130
a0001c0001t0001g0131
others(7): Show 
a0001c0001t0001g0100
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
 13 HG00735.hp2
HG01106.hp1
HG01884.hp2
others(10): Show 
HG00735.hp2
HG01106.hp1
HG01884.hp2
HG02451.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG03540.hp1
NA18522.hp1
NA18952.hp1
NA18961.hp1
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.57+1663delC
c.57+1663delC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345745
chrX:19345745 TCC
TCC
 T
T
 18 a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
others(15): Show 
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 30 HG01070.hp2
HG01081.hp2
HG02015.hp1
others(27): Show 
HG01070.hp2
HG01081.hp2
HG02015.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02738.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
 intron_variant MODIFIER c.57+1662_57+1663del
others(2): Show 
c.57+1662_57+1663delCC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19345745
chrX:19346036 A
A
 T
T
 3 a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
 6 HG02109.hp1
HG02258.hp1
HG02630.hp2
others(3): Show 
HG02109.hp1
HG02258.hp1
HG02630.hp2
HG03195.hp1
HG03453.hp2
HG03516.hp2
 intron_variant MODIFIER c.57+1942A>T
c.57+1942A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346036
chrX:19346048 A
A
 G
G
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.57+1954A>G
c.57+1954A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346048
chrX:19346055 A
A
 G
G
 11 a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
others(8): Show 
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
 16 HG01070.hp2
HG01081.hp2
HG02015.hp1
others(13): Show 
HG01070.hp2
HG01081.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02738.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.57+1961A>G
c.57+1961A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346055
chrX:19346212 G
G
 C
C
 1 a0001c0002t0002g0041
a0001c0002t0002g0041
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.57+2118G>C
c.57+2118G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346212
chrX:19346287 CGCTGTGT
CGCTGTGT
 C
C
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.57+2195_57+2201del
others(7): Show 
c.57+2195_57+2201delCTGTGTG
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19346287
chrX:19346397 C
C
 T
T
 4 a0002c0003t0001g0026
a0002c0003t0001g0088
a0002c0003t0001g0098
others(1): Show 
a0002c0003t0001g0026
a0002c0003t0001g0088
a0002c0003t0001g0098
a0002c0003t0001g0128
 5 NA18950.hp1
NA18963.hp1
NA18969.hp2
others(2): Show 
NA18950.hp1
NA18963.hp1
NA18969.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.57+2303C>T
c.57+2303C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346397
chrX:19346494 A
A
 AT
AT
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.57+2410dupT
c.57+2410dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19346494
chrX:19346494 A
A
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 2 NA19000.hp1
NA19070.hp1
NA19000.hp1
NA19070.hp1
 intron_variant MODIFIER c.57+2400A>T
c.57+2400A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346494
chrX:19346526 C
C
 T
T
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.57+2432C>T
c.57+2432C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346526
chrX:19346576 G
G
 A
A
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.57+2482G>A
c.57+2482G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346576
chrX:19346685 A
A
 G
G
 11 a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
others(8): Show 
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
 16 HG01070.hp2
HG01081.hp2
HG02015.hp1
others(13): Show 
HG01070.hp2
HG01081.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02738.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.57+2591A>G
c.57+2591A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346685
chrX:19346726 A
A
 G
G
 1 a0001c0002t0001g0034
a0001c0002t0001g0034
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.58-2586A>G
c.58-2586A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346726
chrX:19346754 T
T
 A
A
 11 a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
others(8): Show 
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
 16 HG01070.hp2
HG01081.hp2
HG02015.hp1
others(13): Show 
HG01070.hp2
HG01081.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02738.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.58-2558T>A
c.58-2558T>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19346754
chrX:19346964 C
C
 CT
CT
 3 a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
 6 HG02109.hp1
HG02258.hp1
HG02630.hp2
others(3): Show 
HG02109.hp1
HG02258.hp1
HG02630.hp2
HG03195.hp1
HG03453.hp2
HG03516.hp2
 intron_variant MODIFIER c.58-2340dupT
c.58-2340dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19346964
chrX:19346978 AT
AT
 A
A
 2 a0001c0001t0001g0113
a0001c0002t0001g0089
a0001c0001t0001g0113
a0001c0002t0001g0089
 2 NA18982.hp1
NA21309.hp2
NA18982.hp1
NA21309.hp2
 intron_variant MODIFIER c.58-2323delT
c.58-2323delT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19346978
chrX:19347070 T
T
 C
C
 20 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
others(17): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0038
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0070
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0018g0072
a0001c0005t0004g0073
 28 HG01070.hp1
HG01071.hp2
HG01109.hp1
others(25): Show 
HG01070.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA19030.hp1
 intron_variant MODIFIER c.58-2242T>C
c.58-2242T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19347070
chrX:19347164 G
G
 A
A
 4 a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
others(1): Show 
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
 4 HG01361.hp2
HG02451.hp2
NA19043.hp1
others(1): Show 
HG01361.hp2
HG02451.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.58-2148G>A
c.58-2148G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19347164
chrX:19347376 C
C
 T
T
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.58-1936C>T
c.58-1936C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19347376
chrX:19347563 C
C
 T
T
 3 a0001c0001t0001g0024
a0001c0001t0001g0101
a0001c0001t0001g0112
a0001c0001t0001g0024
a0001c0001t0001g0101
a0001c0001t0001g0112
 4 HG00642.hp1
HG01934.hp1
HG02056.hp1
others(1): Show 
HG00642.hp1
HG01934.hp1
HG02056.hp1
NA19066.hp1
 intron_variant MODIFIER c.58-1749C>T
c.58-1749C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19347563
chrX:19347607 C
C
 T
T
 1 a0001c0002t0010g0017
a0001c0002t0010g0017
 2 HG01884.hp2
HG02723.hp2
HG01884.hp2
HG02723.hp2
 intron_variant MODIFIER c.58-1705C>T
c.58-1705C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19347607
chrX:19347680 A
A
 G
G
 2 a0001c0001t0001g0030
a0001c0001t0001g0097
a0001c0001t0001g0030
a0001c0001t0001g0097
 3 NA18971.hp1
NA18994.hp1
NA19087.hp1
NA18971.hp1
NA18994.hp1
NA19087.hp1
 intron_variant MODIFIER c.58-1632A>G
c.58-1632A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19347680
chrX:19347690 T
T
 C
C
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.58-1622T>C
c.58-1622T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19347690
chrX:19348194 T
T
 TTA
TTA
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-1118_58-1117ins
others(2): Show 
c.58-1118_58-1117insTA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348194
chrX:19348195 A
A
 G
G
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-1117A>G
c.58-1117A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348195
chrX:19348204 C
C
 CT
CT
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-1106dupT
c.58-1106dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19348204
chrX:19348241 T
T
 A
A
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.58-1071T>A
c.58-1071T>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348241
chrX:19348389 A
A
 AT
AT
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-920dupT
c.58-920dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19348389
chrX:19348615 T
T
 G
G
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.58-697T>G
c.58-697T>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348615
chrX:19348669 C
C
 T
T
 21 a0001c0001t0001g0111
a0001c0002t0001g0138
a0001c0002t0002g0006
others(18): Show 
a0001c0001t0001g0111
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0038
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 29 HG01070.hp1
HG01071.hp2
HG01109.hp1
others(26): Show 
HG01070.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA19030.hp1
 intron_variant MODIFIER c.58-643C>T
c.58-643C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348669
chrX:19348687 C
C
 CA
CA
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-623dupA
c.58-623dupA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19348687
chrX:19348894 G
G
 A
A
 11 a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
others(8): Show 
a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0070
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0011g0053
 13 HG01106.hp1
HG01361.hp2
HG02451.hp1
others(10): Show 
HG01106.hp1
HG01361.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp1
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.58-418G>A
c.58-418G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348894
chrX:19348919 T
T
 TG
TG
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-390dupG
c.58-390dupG
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19348919
chrX:19348941 G
G
 GTC
GTC
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-368_58-367dupTC
c.58-368_58-367dupTC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19348941
chrX:19348958 C
C
 CA
CA
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-350dupA
c.58-350dupA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19348958
chrX:19348958 C
C
 T
T
 52 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(49): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.58-354C>T
c.58-354C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348958
chrX:19348972 A
A
 G
G
 3 a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
 6 HG02109.hp1
HG02258.hp1
HG02630.hp2
others(3): Show 
HG02109.hp1
HG02258.hp1
HG02630.hp2
HG03195.hp1
HG03453.hp2
HG03516.hp2
 intron_variant MODIFIER c.58-340A>G
c.58-340A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19348972
chrX:19348997 T
T
 TA
TA
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-314dupA
c.58-314dupA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19348997
chrX:19349014 A
A
 G
G
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.58-298A>G
c.58-298A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19349014
chrX:19349052 A
A
 C
C
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.58-260A>C
c.58-260A>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19349052
chrX:19349120 TG
TG
 T
T
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.58-190delG
c.58-190delG
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 INFO_REALIGN_3_PRIME chrX 19349120
chrX:19349228 C
C
 T
T
 3 a0001c0001t0001g0029
a0001c0001t0001g0096
a0001c0001t0001g0136
a0001c0001t0001g0029
a0001c0001t0001g0096
a0001c0001t0001g0136
 4 HG00735.hp1
HG01167.hp1
HG01169.hp1
others(1): Show 
HG00735.hp1
HG01167.hp1
HG01169.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.58-84C>T
c.58-84C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 1/10 chrX 19349228
chrX:19349381 G
G
 GT
GT
 2 a0001c0001t0001g0110
a0001c0001t0017g0129
a0001c0001t0001g0110
a0001c0001t0017g0129
 2 NA18969.hp1
NA18985.hp1
NA18969.hp1
NA18985.hp1
 intron_variant MODIFIER c.117+14dupT
c.117+14dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349381
chrX:19349414 ACT
ACT
 A
A
 2 a0001c0002t0004g0064
a0001c0005t0004g0073
a0001c0002t0004g0064
a0001c0005t0004g0073
 2 HG01109.hp1
HG01891.hp1
HG01109.hp1
HG01891.hp1
 intron_variant MODIFIER c.117+46_117+47delCT
c.117+46_117+47delCT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349414
chrX:19349472 C
C
 CA
CA
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.117+102dupA
c.117+102dupA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349472
chrX:19349519 GA
GA
 G
G
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.117+152delA
c.117+152delA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349519
chrX:19349559 TG
TG
 T
T
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.117+194delG
c.117+194delG
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349559
chrX:19349587 GA
GA
 G
G
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.117+220delA
c.117+220delA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349587
chrX:19349587 GAAAATA
GAAAATA
 G
G
 3 a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0126
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0126
 3 NA18940.hp1
NA18967.hp1
NA19004.hp1
NA18940.hp1
NA18967.hp1
NA19004.hp1
 intron_variant MODIFIER c.117+226_117+231del
others(6): Show 
c.117+226_117+231delATAAAA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349587
chrX:19349639 AT
AT
 A
A
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.117+271delT
c.117+271delT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349639
chrX:19349744 TC
TC
 T
T
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.118-188delC
c.118-188delC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349744
chrX:19349861 G
G
 A
A
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.118-76G>A
c.118-76G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 chrX 19349861
chrX:19349930 AT
AT
 A
A
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 splice_region_variant&intron_variant LOW c.118-4delT
c.118-4delT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 2/10 INFO_REALIGN_3_PRIME chrX 19349930
chrX:19350162 C
C
 T
T
 11 a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
others(8): Show 
a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0070
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0011g0053
 13 HG01106.hp1
HG01361.hp2
HG02451.hp1
others(10): Show 
HG01106.hp1
HG01361.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp1
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.291+52C>T
c.291+52C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350162
chrX:19350184 C
C
 T
T
 2 a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0006g0050
a0001c0002t0006g0051
 2 NA19043.hp1
NA19240.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.291+74C>T
c.291+74C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350184
chrX:19350218 A
A
 G
G
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.291+108A>G
c.291+108A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350218
chrX:19350238 T
T
 TC
TC
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.291+128_291+129ins
others(1): Show 
c.291+128_291+129insC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350238
chrX:19350396 T
T
 C
C
 1 a0001c0002t0002g0070
a0001c0002t0002g0070
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.291+286T>C
c.291+286T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350396
chrX:19350545 C
C
 T
T
 1 a0001c0001t0009g0125
a0001c0001t0009g0125
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.291+435C>T
c.291+435C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350545
chrX:19350651 C
C
 T
T
 11 a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
others(8): Show 
a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0070
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0011g0053
 13 HG01106.hp1
HG01361.hp2
HG02451.hp1
others(10): Show 
HG01106.hp1
HG01361.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp1
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.291+541C>T
c.291+541C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350651
chrX:19350746 G
G
 GT
GT
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.292-532dupT
c.292-532dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 INFO_REALIGN_3_PRIME chrX 19350746
chrX:19350899 C
C
 T
T
 1 a0001c0002t0007g0009
a0001c0002t0007g0009
 3 HG02451.hp1
HG02615.hp1
NA18522.hp1
HG02451.hp1
HG02615.hp1
NA18522.hp1
 intron_variant MODIFIER c.292-382C>T
c.292-382C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350899
chrX:19350939 T
T
 C
C
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.292-342T>C
c.292-342T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350939
chrX:19350977 T
T
 A
A
 3 a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0057
 6 HG02109.hp1
HG02258.hp1
HG02630.hp2
others(3): Show 
HG02109.hp1
HG02258.hp1
HG02630.hp2
HG03195.hp1
HG03453.hp2
HG03516.hp2
 intron_variant MODIFIER c.292-304T>A
c.292-304T>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19350977
chrX:19351086 T
T
 A
A
 1 a0001c0001t0001g0115
a0001c0001t0001g0115
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.292-195T>A
c.292-195T>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19351086
chrX:19351222 C
C
 T
T
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.292-59C>T
c.292-59C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 3/10 chrX 19351222
chrX:19351795 G
G
 GT
GT
 36 a0001c0001t0001g0003
a0001c0001t0001g0008
a0001c0001t0001g0012
others(33): Show 
a0001c0001t0001g0003
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0039
a0001c0001t0001g0075
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0094
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0113
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0002t0001g0033
a0001c0002t0001g0034
a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0070
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0007g0009
a0001c0002t0011g0053
a0001c0002t0019g0139
a0002c0003t0001g0003
a0002c0003t0001g0008
a0002c0003t0001g0012
a0002c0003t0001g0128
 51 HG00735.hp2
HG00738.hp1
HG01106.hp1
others(48): Show 
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01346.hp1
HG01891.hp2
HG02027.hp1
HG02040.hp1
HG02257.hp1
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02615.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03195.hp2
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03927.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp1
NA18943.hp1
NA18948.hp1
NA18950.hp2
NA18960.hp1
NA18966.hp1
NA18967.hp1
NA18977.hp1
NA18982.hp1
NA18985.hp1
NA18990.hp1
NA18998.hp1
NA19006.hp1
NA19010.hp1
NA19010.hp2
NA19058.hp1
NA19063.hp1
NA19067.hp1
NA19068.hp1
NA19076.hp1
NA19082.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.418+409dupT
c.418+409dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 G
G
 GTT
GTT
 12 a0001c0001t0001g0095
a0001c0002t0002g0054
a0001c0002t0003g0007
others(9): Show 
a0001c0001t0001g0095
a0001c0002t0002g0054
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0006g0045
a0001c0002t0006g0049
 17 HG01070.hp2
HG01081.hp2
HG01361.hp1
others(14): Show 
HG01070.hp2
HG01081.hp2
HG01361.hp1
HG01361.hp2
HG02015.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp2
HG02630.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
NA19030.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.418+408_418+409dup
others(2): Show 
c.418+408_418+409dupTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 G
G
 GTTT
GTTT
 18 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
others(15): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0003g0031
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0064
a0001c0002t0004g0067
a0001c0002t0004g0071
a0001c0002t0006g0050
 26 HG01070.hp1
HG01071.hp2
HG01109.hp1
others(23): Show 
HG01070.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01884.hp1
HG02083.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp1
HG06807.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.418+407_418+409dup
others(3): Show 
c.418+407_418+409dupTTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 G
G
 GTTTT
GTTTT
 9 a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0038
others(6): Show 
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0038
a0001c0002t0004g0061
a0001c0002t0004g0065
a0001c0002t0004g0068
a0001c0002t0006g0051
a0001c0002t0010g0017
a0001c0005t0004g0073
 13 HG01123.hp2
HG01884.hp2
HG01891.hp1
others(10): Show 
HG01123.hp2
HG01884.hp2
HG01891.hp1
HG02109.hp1
HG02258.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02818.hp2
HG02970.hp1
HG03195.hp1
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.418+406_418+409dup
others(4): Show 
c.418+406_418+409dupTTTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 G
G
 GTTTTT
GTTTTT
 3 a0001c0002t0002g0057
a0001c0002t0004g0066
a0001c0002t0018g0072
a0001c0002t0002g0057
a0001c0002t0004g0066
a0001c0002t0018g0072
 3 HG02257.hp2
HG03516.hp1
HG03516.hp2
HG02257.hp2
HG03516.hp1
HG03516.hp2
 intron_variant MODIFIER c.418+405_418+409dup
others(5): Show 
c.418+405_418+409dupTTTTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 G
G
 GTTTTTT
GTTTTTT
 1 a0001c0002t0002g0041
a0001c0002t0002g0041
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.418+404_418+409dup
others(6): Show 
c.418+404_418+409dupTTTTTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 GT
GT
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0116
a0001c0001t0001g0133
 2 NA18963.hp2
NA19072.hp1
NA18963.hp2
NA19072.hp1
 intron_variant MODIFIER c.418+409delT
c.418+409delT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 GTT
GTT
 G
G
 1 a0002c0003t0001g0102
a0002c0003t0001g0102
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.418+408_418+409del
others(2): Show 
c.418+408_418+409delTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351795 GTTTT
GTTTT
 G
G
 3 a0001c0001t0001g0013
a0001c0001t0001g0132
a0003c0004t0001g0091
a0001c0001t0001g0013
a0001c0001t0001g0132
a0003c0004t0001g0091
 5 HG02135.hp1
NA18945.hp1
NA18962.hp1
others(2): Show 
HG02135.hp1
NA18945.hp1
NA18962.hp1
NA19089.hp1
NA19091.hp1
 intron_variant MODIFIER c.418+406_418+409del
others(4): Show 
c.418+406_418+409delTTTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19351795
chrX:19351848 G
G
 T
T
 4 a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
others(1): Show 
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0038
 8 HG02280.hp2
HG02486.hp1
HG02615.hp2
others(5): Show 
HG02280.hp2
HG02486.hp1
HG02615.hp2
HG02818.hp2
HG02922.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp2
 intron_variant MODIFIER c.418+441G>T
c.418+441G>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19351848
chrX:19351853 C
C
 T
T
 1 a0002c0003t0001g0122
a0002c0003t0001g0122
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.418+446C>T
c.418+446C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19351853
chrX:19351901 T
T
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.418+494T>C
c.418+494T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19351901
chrX:19352005 G
G
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.418+598G>C
c.418+598G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352005
chrX:19352007 C
C
 T
T
 1 a0001c0002t0005g0043
a0001c0002t0005g0043
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.418+600C>T
c.418+600C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352007
chrX:19352225 C
C
 CT
CT
 8 a0001c0001t0001g0085
a0001c0001t0001g0108
a0001c0001t0001g0110
others(5): Show 
a0001c0001t0001g0085
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0133
a0002c0003t0001g0026
a0002c0003t0001g0098
a0002c0003t0001g0102
 9 HG02602.hp1
HG03490.hp1
NA18950.hp1
others(6): Show 
HG02602.hp1
HG03490.hp1
NA18950.hp1
NA18950.hp2
NA18963.hp1
NA18963.hp2
NA18985.hp1
NA19011.hp1
NA19011.hp2
 intron_variant MODIFIER c.418+836dupT
c.418+836dupT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19352225
chrX:19352225 C
C
 CTTTT
CTTTT
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.418+833_418+836dup
others(4): Show 
c.418+833_418+836dupTTTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19352225
chrX:19352225 CT
CT
 C
C
 2 a0001c0001t0001g0117
a0001c0001t0001g0130
a0001c0001t0001g0117
a0001c0001t0001g0130
 2 NA18961.hp1
NA18986.hp1
NA18961.hp1
NA18986.hp1
 intron_variant MODIFIER c.418+836delT
c.418+836delT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19352225
chrX:19352225 CTT
CTT
 C
C
 49 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(46): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 68 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(65): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.418+835_418+836del
others(2): Show 
c.418+835_418+836delTT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 INFO_REALIGN_3_PRIME chrX 19352225
chrX:19352256 C
C
 A
A
 1 a0001c0002t0007g0009
a0001c0002t0007g0009
 3 HG02451.hp1
HG02615.hp1
NA18522.hp1
HG02451.hp1
HG02615.hp1
NA18522.hp1
 intron_variant MODIFIER c.419-826C>A
c.419-826C>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352256
chrX:19352607 A
A
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.419-475A>C
c.419-475A>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352607
chrX:19352653 C
C
 T
T
 1 a0001c0002t0001g0033
a0001c0002t0001g0033
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.419-429C>T
c.419-429C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352653
chrX:19352676 C
C
 G
G
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.419-406C>G
c.419-406C>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352676
chrX:19352687 A
A
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.419-395A>C
c.419-395A>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352687
chrX:19352833 T
T
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.419-249T>C
c.419-249T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 4/10 chrX 19352833
chrX:19353403 G
G
 A
A
 1 a0001c0002t0003g0055
a0001c0002t0003g0055
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.510+230G>A
c.510+230G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19353403
chrX:19353409 G
G
 T
T
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.510+236G>T
c.510+236G>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19353409
chrX:19353572 T
T
 TG
TG
 1 a0001c0001t0001g0107
a0001c0001t0001g0107
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.510+400dupG
c.510+400dupG
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 INFO_REALIGN_3_PRIME chrX 19353572
chrX:19353583 G
G
 C
C
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.510+410G>C
c.510+410G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19353583
chrX:19353744 A
A
 G
G
 22 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
others(19): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 30 HG01070.hp1
HG01071.hp2
HG01109.hp1
others(27): Show 
HG01070.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA19030.hp1
 intron_variant MODIFIER c.510+571A>G
c.510+571A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19353744
chrX:19353932 G
G
 T
T
 11 a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
others(8): Show 
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
 16 HG01070.hp2
HG01081.hp2
HG02015.hp1
others(13): Show 
HG01070.hp2
HG01081.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02738.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.511-559G>T
c.511-559G>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19353932
chrX:19353987 C
C
 T
T
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.511-504C>T
c.511-504C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19353987
chrX:19354070 C
C
 T
T
 2 a0001c0001t0001g0028
a0001c0001t0001g0106
a0001c0001t0001g0028
a0001c0001t0001g0106
 3 HG01081.hp1
HG01169.hp2
NA20752.hp1
HG01081.hp1
HG01169.hp2
NA20752.hp1
 intron_variant MODIFIER c.511-421C>T
c.511-421C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19354070
chrX:19354135 G
G
 A
A
 1 a0001c0002t0003g0056
a0001c0002t0003g0056
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.511-356G>A
c.511-356G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19354135
chrX:19354313 G
G
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.511-178G>C
c.511-178G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 5/10 chrX 19354313
chrX:19354655 AAAG
AAAG
 A
A
 1 a0001c0002t0003g0060
a0001c0002t0003g0060
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.603+76_603+78delAA
others(1): Show 
c.603+76_603+78delAAG
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 6/10 INFO_REALIGN_3_PRIME chrX 19354655
chrX:19354659 A
A
 T
T
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.603+76A>T
c.603+76A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 6/10 chrX 19354659
chrX:19355004 C
C
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.604-345C>G
c.604-345C>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 6/10 chrX 19355004
chrX:19355261 T
T
 G
G
 1 a0002c0003t0001g0122
a0002c0003t0001g0122
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.604-88T>G
c.604-88T>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 6/10 chrX 19355261
chrX:19355286 G
G
 A
A
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.604-63G>A
c.604-63G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 6/10 chrX 19355286
chrX:19355334 C
C
 T
T
 11 a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
others(8): Show 
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
 16 HG01070.hp2
HG01081.hp2
HG02015.hp1
others(13): Show 
HG01070.hp2
HG01081.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02738.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.604-15C>T
c.604-15C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 6/10 chrX 19355334
chrX:19355529 GGGCCAA
GGGCCAA
 G
G
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.759+40_759+45delCC
others(4): Show 
c.759+40_759+45delCCAAGG
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 7/10 INFO_REALIGN_3_PRIME chrX 19355529
chrX:19355671 C
C
 A
A
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.760-15C>A
c.760-15C>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 7/10 chrX 19355671
chrX:19355849 C
C
 G
G
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.831+92C>G
c.831+92C>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19355849
chrX:19355945 G
G
 A
A
 1 a0001c0002t0002g0054
a0001c0002t0002g0054
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.831+188G>A
c.831+188G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19355945
chrX:19355968 C
C
 T
T
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.831+211C>T
c.831+211C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19355968
chrX:19356182 C
C
 T
T
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.831+425C>T
c.831+425C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356182
chrX:19356237 T
T
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.831+480T>G
c.831+480T>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356237
chrX:19356293 A
A
 G
G
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.831+536A>G
c.831+536A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356293
chrX:19356328 A
A
 C
C
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.831+571A>C
c.831+571A>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356328
chrX:19356409 A
A
 C
C
 2 a0001c0002t0002g0041
a0001c0002t0004g0071
a0001c0002t0002g0041
a0001c0002t0004g0071
 2 HG02055.hp1
HG02922.hp2
HG02055.hp1
HG02922.hp2
 intron_variant MODIFIER c.831+652A>C
c.831+652A>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356409
chrX:19356475 T
T
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.831+718T>C
c.831+718T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356475
chrX:19356531 T
T
 G
G
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.831+774T>G
c.831+774T>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356531
chrX:19356614 G
G
 C
C
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.831+857G>C
c.831+857G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356614
chrX:19356682 GAATGTAG
others(129): Show 
GAATGTAGTTGTAGAATGTGTGACTTTCCCAAACAGATAACCTTCACAAT
TCTGAGTTAGGTGTTATTGTTTTGCCCATTTTGCAGACAAGGAAACTGAG
CCATAGAGCAGTTAAAGGTACACAGCTACTCTGTCTT
 G
G
 36 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(33): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 49 HG01070.hp1
HG01071.hp2
HG01106.hp1
others(46): Show 
HG01070.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.831+926_832-834del
c.831+926_832-834del
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356682
chrX:19356748 T
T
 C
C
 17 a0001c0002t0002g0041
a0001c0002t0003g0007
a0001c0002t0003g0019
others(14): Show 
a0001c0002t0002g0041
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0010g0017
 27 HG01070.hp2
HG01081.hp2
HG01884.hp2
others(24): Show 
HG01070.hp2
HG01081.hp2
HG01884.hp2
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp2
HG02559.hp2
HG02630.hp1
HG02723.hp2
HG02738.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03710.hp1
HG04199.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
 intron_variant MODIFIER c.832-904T>C
c.832-904T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19356748
chrX:19357025 A
A
 G
G
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.832-627A>G
c.832-627A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357025
chrX:19357111 G
G
 A
A
 11 a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
others(8): Show 
a0001c0002t0002g0040
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0070
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0011g0053
 13 HG01106.hp1
HG01361.hp2
HG02451.hp1
others(10): Show 
HG01106.hp1
HG01361.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp1
HG03540.hp1
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.832-541G>A
c.832-541G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357111
chrX:19357158 C
C
 T
T
 4 a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
others(1): Show 
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
 8 HG02280.hp1
HG02293.hp2
HG02895.hp1
others(5): Show 
HG02280.hp1
HG02293.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.832-494C>T
c.832-494C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357158
chrX:19357229 G
G
 A
A
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.832-423G>A
c.832-423G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357229
chrX:19357240 G
G
 A
A
 1 a0001c0002t0002g0070
a0001c0002t0002g0070
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.832-412G>A
c.832-412G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357240
chrX:19357273 T
T
 TTTGA
TTTGA
 2 a0001c0002t0004g0064
a0001c0005t0004g0073
a0001c0002t0004g0064
a0001c0005t0004g0073
 2 HG01109.hp1
HG01891.hp1
HG01109.hp1
HG01891.hp1
 intron_variant MODIFIER c.832-377_832-374dup
others(4): Show 
c.832-377_832-374dupTGAT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 INFO_REALIGN_3_PRIME chrX 19357273
chrX:19357296 A
A
 T
T
 4 a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
others(1): Show 
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0038
 8 HG02280.hp2
HG02486.hp1
HG02615.hp2
others(5): Show 
HG02280.hp2
HG02486.hp1
HG02615.hp2
HG02818.hp2
HG02922.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp2
 intron_variant MODIFIER c.832-356A>T
c.832-356A>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357296
chrX:19357310 A
A
 G
G
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.832-342A>G
c.832-342A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357310
chrX:19357335 C
C
 A
A
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.832-317C>A
c.832-317C>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357335
chrX:19357439 T
T
 C
C
 6 a0001c0001t0001g0092
a0001c0001t0001g0109
a0001c0001t0001g0115
others(3): Show 
a0001c0001t0001g0092
a0001c0001t0001g0109
a0001c0001t0001g0115
a0001c0001t0001g0123
a0001c0001t0017g0129
a0002c0003t0001g0119
 6 HG00408.hp2
HG00558.hp1
NA18969.hp1
others(3): Show 
HG00408.hp2
HG00558.hp1
NA18969.hp1
NA19010.hp2
NA19082.hp1
NA19085.hp1
 intron_variant MODIFIER c.832-213T>C
c.832-213T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357439
chrX:19357441 A
A
 G
G
 15 a0001c0002t0002g0037
a0001c0002t0002g0041
a0001c0002t0002g0069
others(12): Show 
a0001c0002t0002g0037
a0001c0002t0002g0041
a0001c0002t0002g0069
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0018g0072
a0001c0005t0004g0073
 19 HG01070.hp1
HG01071.hp2
HG01109.hp1
others(16): Show 
HG01070.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02257.hp2
HG02572.hp1
HG02622.hp2
HG02809.hp1
HG02818.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG03225.hp1
HG03516.hp1
HG03579.hp1
 intron_variant MODIFIER c.832-211A>G
c.832-211A>G
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357441
chrX:19357592 C
C
 T
T
 53 a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
others(50): Show 
a0001c0002t0001g0138
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 76 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(73): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.832-60C>T
c.832-60C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 8/10 chrX 19357592
chrX:19357879 A
A
 AATAAG
AATAAG
 3 a0001c0002t0001g0027
a0001c0002t0001g0105
a0001c0002t0001g0134
a0001c0002t0001g0027
a0001c0002t0001g0105
a0001c0002t0001g0134
 4 HG02976.hp2
HG03130.hp1
HG03139.hp1
others(1): Show 
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG06807.hp1
 intron_variant MODIFIER c.899+162_899+166dup
others(5): Show 
c.899+162_899+166dupTAAGA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 INFO_REALIGN_3_PRIME chrX 19357879
chrX:19358058 C
C
 T
T
 2 a0001c0001t0001g0078
a0001c0001t0001g0094
a0001c0001t0001g0078
a0001c0001t0001g0094
 2 NA18965.hp1
NA19067.hp1
NA18965.hp1
NA19067.hp1
 intron_variant MODIFIER c.899+339C>T
c.899+339C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358058
chrX:19358145 C
C
 T
T
 52 a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
others(49): Show 
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.899+426C>T
c.899+426C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358145
chrX:19358253 G
G
 C
C
 2 a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0103
a0001c0001t0001g0114
 2 HG00597.hp1
NA19087.hp2
HG00597.hp1
NA19087.hp2
 intron_variant MODIFIER c.899+534G>C
c.899+534G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358253
chrX:19358256 G
G
 GAATA
GAATA
 1 a0002c0003t0001g0093
a0002c0003t0001g0093
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.899+543_899+546dup
others(4): Show 
c.899+543_899+546dupATAA
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 INFO_REALIGN_3_PRIME chrX 19358256
chrX:19358476 G
G
 A
A
 4 a0001c0001t0001g0111
a0001c0002t0003g0019
a0001c0002t0003g0047
others(1): Show 
a0001c0001t0001g0111
a0001c0002t0003g0019
a0001c0002t0003g0047
a0001c0002t0003g0056
 5 HG01192.hp1
HG02559.hp2
HG03209.hp1
others(2): Show 
HG01192.hp1
HG02559.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp2
 intron_variant MODIFIER c.900-440G>A
c.900-440G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358476
chrX:19358577 C
C
 T
T
 16 a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
others(13): Show 
a0001c0002t0002g0006
a0001c0002t0002g0016
a0001c0002t0002g0036
a0001c0002t0002g0038
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0010g0017
 26 HG01070.hp2
HG01081.hp2
HG01884.hp2
others(23): Show 
HG01070.hp2
HG01081.hp2
HG01884.hp2
HG02015.hp1
HG02083.hp1
HG02145.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02922.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.900-339C>T
c.900-339C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358577
chrX:19358632 C
C
 T
T
 1 a0001c0002t0011g0053
a0001c0002t0011g0053
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.900-284C>T
c.900-284C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358632
chrX:19358633 G
G
 A
A
 1 a0001c0002t0007g0009
a0001c0002t0007g0009
 3 HG02451.hp1
HG02615.hp1
NA18522.hp1
HG02451.hp1
HG02615.hp1
NA18522.hp1
 intron_variant MODIFIER c.900-283G>A
c.900-283G>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358633
chrX:19358651 T
T
 C
C
 5 a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
others(2): Show 
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0070
a0001c0002t0011g0053
 5 HG02717.hp1
HG02723.hp1
HG03540.hp1
others(2): Show 
HG02717.hp1
HG02723.hp1
HG03540.hp1
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.900-265T>C
c.900-265T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358651
chrX:19358668 C
C
 T
T
 1 a0001c0002t0002g0054
a0001c0002t0002g0054
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.900-248C>T
c.900-248C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358668
chrX:19358753 C
C
 T
T
 1 a0001c0002t0007g0009
a0001c0002t0007g0009
 3 HG02451.hp1
HG02615.hp1
NA18522.hp1
HG02451.hp1
HG02615.hp1
NA18522.hp1
 intron_variant MODIFIER c.900-163C>T
c.900-163C>T
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358753
chrX:19358820 T
T
 C
C
 1 a0001c0001t0001g0104
a0001c0001t0001g0104
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.900-96T>C
c.900-96T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358820
chrX:19358828 A
A
 ATCCAACC
others(12): Show 
ATCCAACCCCATATCATGTT
 4 a0001c0002t0001g0138
a0001c0002t0002g0062
a0001c0002t0002g0063
others(1): Show 
a0001c0002t0001g0138
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0010g0017
 5 HG01884.hp2
HG02559.hp1
HG02723.hp2
others(2): Show 
HG01884.hp2
HG02559.hp1
HG02723.hp2
HG03098.hp1
NA19030.hp1
 intron_variant MODIFIER c.900-85_900-67dupCA
others(17): Show 
c.900-85_900-67dupCAACCCCATATCATGTTTC
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 INFO_REALIGN_3_PRIME chrX 19358828
chrX:19358858 G
G
 C
C
 30 a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0037
others(27): Show 
a0001c0002t0002g0010
a0001c0002t0002g0018
a0001c0002t0002g0037
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 39 HG01070.hp1
HG01071.hp2
HG01106.hp1
others(36): Show 
HG01070.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.900-58G>C
c.900-58G>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358858
chrX:19358890 C
C
 A
A
 1 a0001c0002t0003g0056
a0001c0002t0003g0056
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.900-26C>A
c.900-26C>A
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 9/10 chrX 19358890
chrX:19359278 T
T
 C
C
 52 a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
others(49): Show 
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1009-211T>C
c.1009-211T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 10/10 chrX 19359278
chrX:19359310 AT
AT
 A
A
 1 a0001c0001t0017g0129
a0001c0001t0017g0129
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.1009-174delT
c.1009-174delT
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 10/10 INFO_REALIGN_3_PRIME chrX 19359310
chrX:19359466 T
T
 C
C
 52 a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
others(49): Show 
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0016
a0001c0002t0002g0018
a0001c0002t0002g0036
a0001c0002t0002g0037
a0001c0002t0002g0038
a0001c0002t0002g0040
a0001c0002t0002g0041
a0001c0002t0002g0046
a0001c0002t0002g0052
a0001c0002t0002g0054
a0001c0002t0002g0057
a0001c0002t0002g0062
a0001c0002t0002g0063
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0003g0007
a0001c0002t0003g0019
a0001c0002t0003g0020
a0001c0002t0003g0031
a0001c0002t0003g0047
a0001c0002t0003g0048
a0001c0002t0003g0055
a0001c0002t0003g0056
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0004g0011
a0001c0002t0004g0021
a0001c0002t0004g0022
a0001c0002t0004g0061
a0001c0002t0004g0064
a0001c0002t0004g0065
a0001c0002t0004g0066
a0001c0002t0004g0067
a0001c0002t0004g0068
a0001c0002t0004g0071
a0001c0002t0005g0005
a0001c0002t0005g0042
a0001c0002t0005g0043
a0001c0002t0005g0044
a0001c0002t0006g0045
a0001c0002t0006g0049
a0001c0002t0006g0050
a0001c0002t0006g0051
a0001c0002t0007g0009
a0001c0002t0010g0017
a0001c0002t0011g0053
a0001c0002t0018g0072
a0001c0002t0019g0139
a0001c0005t0004g0073
 75 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(72): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1009-23T>C
c.1009-23T>C
PDHA1 ENSG00000131828.14 transcript ENST00000422285.7 protein_coding 10/10 chrX 19359466

  • 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.